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... or you lost your password?This glossary aims to provide accurate definitions of key terms. Words in italics have their own explanations. If you feel there are terms that should be added to the glossary, please send an e-mail to info@excemed.org with your suggestion.
Premixed insulin formulation that comprises 50% of an intermediate-acting insulin and 50% of a short- or rapid-acting insulin
American Association of Clinical Endocrinologists (North America)
Retained products of conception in utero. Often requires a dilatation and curettage (D&C) to remove tissue from the uterus
A loss of pregnancy during the first trimester.
An elective termination of pregnancy.
A pregnancy at risk of spontaneously aborting. Symptoms are cramping, spotting or bleeding during pregnancy.
Ambulatory blood pressure monitoring, usually undertaken continuously for 24 hours.
Patches of darkened skin observed in some people with insulin resistance, pre-diabetes or type 2 diabetes mellitus
Oral treatment for type 2 diabetes of the class called alpha-glucosidase inhibitors. Blocks enzymes that digest starch (carbohydrate), thereby slowing the time to postprandial blood glucose peak, and also lowering that peak
Cell required for, but not actually mediating, a specific immune response. Often used to describe antigen-presenting cells (APC).
Angiotensin-converting enzyme inhibitors; oral antihypertensive treatments that prevent the synthesis of angiotensin II, thus allowing constricted blood vessels to expand and thereby lowering BP. ACEi therapy may help to reduce the progression of renal damage in diabetic patients with proteinuria
Oral treatment for type 2 diabetes of the class called sulphonylureas. Reduces blood glucose by increasing the production of insulin in beta cells in the pancreas and also improving how insulin is used. Acetohexamide is not used in all countries
One of two basic defence systems of the immune system; refers to defences that are acquired after the body has been exposed to bacteria, viruses or toxins; also called specific immunity because it is directed against, and in response to, specific foreign substances.
Immunity acquired through exposure to antigen and response of one’s own immune system.
Describes how patients follow (or have steady observance of) any therapeutic regimen agreed between themselves and their healthcare practitioners.
Scar tissue which if found in the pelvic cavity may obstruct or impair implantation of the embryo in the uterus. Usually forms as a result of infection, endometriosis or surgery.
Commonly known as ‘frozen shoulder’. Common musculoskeletal condition that is substantially more common in people with diabetes than nondiabetics. This painful, restrictive condition limits the range of movement and causes substantial discomfort in the shoulder joint. It has been proposed that the incidence of frozen shoulder is heightened in people with diabetes because circulatory problems may result in abnormal collagen repair; in addition, factors such as microvascular disease, inflammation and heightened infection risk may speed up the degenerative process in the shoulder joint
Also called epinephrine. Vasoconstrictive chemical released by sympathetic nervous system to increase heart rate.
A hormone that stimulates cortisol secretion by the adrenal glands.
Advanced glycosylation end-products, which are produced when glucose links with protein. AGEs contribute to blood-vessel damage
Act of sperm clumping together, often in response to anti-sperm antibodies.
A drug that bonds to a cell receptor and triggers a response by that cell.
Excess of albumin in the urine that may indicate diabetic nephropathy; albuminuria affects nearly half of all people with a ≥10-year history of type 1 diabetes. In addition, small quantities of protein (microalbuminuria) may be present on diagnosis in people with type 2 diabetes mellitus (either due to damage caused by undiagnosed diabetes or due to the effects of concomitant cardiovascular disease, e.g. hypertension)
Hormone secreted by the adrenal gland to signal the kidneys to conserve sodium and water, which raises blood pressure.
An antigen responsible for producing allergic reactions by inducing IgE formation.
A term covering immune reactions to non-pathogenic antigens, which lead to inflammation and deleterious effects in the host.
Found in the islets of Langerhans, within the pancreas, alpha cells make and secrete the hormone glucagon when blood glucose levels are low; glucagon travels to the liver and releases glucose to provide energy
A glycoprotein derived from fetal liver and partially from the yolk sac. High levels of AFP in the maternal circulation are associated with abnormalities in the fetus such as neural tube defects, intestinal obstruction, omphalocele and congenital nephrosis. Multiple pregnancies will also lead to elevated levels of AFP.
Class of oral treatment for type 2 diabetes mellitus. Blocks enzymes that digest starch (carbohydrate), thereby slowing the time to postprandial blood glucose peak, and also lowering that peak.
Ambulatory blood pressure monitoring, usually undertaken continuously for 24 h
Associazione Medici Endocrinologi (Italy)
Lack of menstruation for 6 months or more.
Amino acids are small molecules with a particular structure, with amino- and carboxy-terminals separating a central carbon atom bearing a side chain that distinguishes one amino acid from another. All proteins are made of strings of amino acids linked together, and some amino acids also have important actions in the nervous system. There are about 20 amino acids that have a role in normal human physiology. Most are synthesized within the body, but some are not and must be obtained from the diet (‘essential amino acids’). People with PKU on a phenylalanine-restricted diet can eat no, or little natural protein; they may need medical foods to supply essential amino acids they would otherwise lack.
A prenatal diagnostic test performed at 16-20 weeks’ gestation in which a small volume of amniotic fluid containing fetal cells is removed by needle aspiration from the amniotic sac. Fetal DNA is then examined for genetic abnormalities.
Hormone made in the pancreas by beta cells that slows gastric emptying and thereby regulates the release of glucose into the bloodstream
Substance capable of releasing histamine from mast cells, released in response to complement activation.
Immediate hypersensitivity response to antigenic challenge, mediated by IgE and mast cells. It can occur after an insect sting or as a reaction to an injected drug - for example, penicillin or antitetanus (horse) serum. Less commonly, the reaction occurs by the release of pharmacologically active agents after a particular food or drug has been taken orally.
Sex hormones produced mainly by the adrenal gland which are present in much higher concentrations in men than women and are responsible for the development and maintenance of male sex characteristics. The major androgen is testosterone. An excessive amount of these hormones in women, defined as hyperandrogenism , can cause hirsutism, amenorrhea and infertility characteristic of the polycystic ovarian syndrome (PCOS).
Any deviation from the exact multiple of the haploid number of chromosomes.
Intense chest pain, symptomatic of CHD. Pain often radiates to the neck, arms or shoulders. Caused by inadequate blood supply to the heart. Associated with high blood pressure and may be a precursor to myocardial infarction.
Responsible for the growth, differentiation and maintenance of blood vessels.
Cardiac catheterization procedure involving the inflation of a small balloon while the catheter is in situ in the artery, to increase blood flow and expand narrowed arterial tissue.
Chemical that causes vasoconstriction, which may lead to elevations in BP.
A class of oral antihypertensive medication
The total absence of ovulation. Menses may still occur.
A compound which binds with the receptor of a hormone or a mediator and acts against or blocks its action.
Produced by the male fetus, this hormone inhibits development of the uterus, vagina, cervix and oviducts. In women, AMH is produced by the preantral and early antral follicles. AMH is gaining acceptance as a measure of ovarian reserve in women with infertility.
Antibodies directed against sperm which may agglutinate and destroy these cells. Both men and women can produce anti-sperm antibodies.
Proteins that protect the body from pathogenic effects of foreign substances (e.g. viruses, bacteria); in people with conditions that have an autoimmune-mediated component, such as type 1 diabetes mellitus, antibodies are produced that may destroy beta cells (which produce insulin in the pancreas)
Protein found in the blood that plays a key function in immune response. An antibody is produced following the introduction of an antigen in the body; a specific antibody is designed to combine with the specific antigen that triggered its production
Antibody-Dependent Cell-mediated Cytotoxicity, killing of target cells by Natural Killer (NK) cells with specific antibody bound to their Fc receptors. After binding to an antigen on a target cell, the Fc portion of IgG interacts with a class of Fc receptors on the surface of immune system cells. The activated immune system cells than eliminate the target cell.
Foreign substance or toxin in the body. Induces an immune response, leading to the production of an antibody
The process by which antigen is presented to lymphocytes in a form they can recognize. This is performed by antigen presenting cells (APCs). Antigen processing consists of ingestion and partial digestion of the antigen by the APC, followed by the presentation of fragments on the cell surface.
Molecules on the surface of B- and T-lymphocytes that recognize and combine with specific antigens.
Surface regions on antibody (Complementary Determining Regions), MHC and TCR which react with antigen determinant sites.
A specialized type of cell, bearing cell surface class major histocompatibility complex (MHC) molecules, that can process antigens and display their peptide fragments on the cell surface together with molecules required for T-cell activation. The main antigen-presenting cells for T cells are dendritic cells, macrophages, and B cells.
A single antigenic site or epitope on a complex antigenic molecule or particle.
Also known as antimicrosomal antibody. Antibody against peroxidase
Family of antibodies that includes the lupus anticoagulant (LAC) and anticardiolipin (aCL). Such antibodies may contribute to recurrent pregnancy loss.
The number of follicles in the ovary at the start of the menstrual cycle. This is used as a measure of ovarian reserve and as an indicator of responsiveness to superovulation.
Asia-Oceania Thyroid Association
Hardening of the arteries
Deposition of sperm in the vagina near the cervix, often used in combination with pharmaceutical ovarian stimulation to improve timing and conditions for gamete interactions. See also Intrauterine insemination (IUI) and Donor insemination (DI).
Intrauterine adhesions that typically occur after uterine surgery.
Fast-acting insulin analogue that lowers blood glucose. When injected subcutaneously in the abdominal wall, the onset of action will occur within 10–20 minutes after injection. The maximum effect is observed between 1 and 3 hours and the duration is 3–5 hours
Aspartame is an artificial sweetener, sold under various brand names. Aspartame releasesphenylalanine when metabolized within the body and should be avoided by people with PKU.
An in vitro procedure in which the zona pellucida of an embryo is perforated by chemical, mechanical, or laser-assisted methods to assist separation of the blastocyst from the zona pellucida.
An umbrella term that refers to techniques, procedures and treatments (including in vitro fertilization; gamete and embryo cryopreservation; ovum, sperm or embryo donation, and surrogacy) performed to help a woman achieve pregnancy.
Low sperm motility.
American Thyroid Association
Fat deposits that build up in arteries, leading to arterial wall stiffening and fat plaques that restrict or block arterial blood flow.
A term used by allergologists to describe IgE-mediated anaphylactic responses in humans, usually genetically determined.
Irregular, abnormally rapid cardiac rhythm disturbance. Extremely common.
This term has been used to refer both to patients with tetrahydrobiopterin deficiency but is also used to describe people with mild hyperphenylalaninemia arising from certain mutations of the gene for phenylalanine hydroxylase.
Condition in which the immune system attacks and destroys body tissue that it incorrectly believes to be pathogenic/foreign
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by autoimmune diseases.
Controls involuntary processes including breathing or heartbeat. Divided into two systems: sympathetic and parasympathetic nervous systems.
Neuropathic condition that affects organs including the genitals, bladder, intestines and heart. A serious but relatively common complication of diabetes mellitus
The manner of inheritance of a gene mutation that does not markedly affect the phenotype of the individual, as the other (non-mutated) copy of the gene provides sufficient activity of the protein encoded by the gene. For example, subjects with one mutated copy and one normal copy of phenylalanine hydroxylase (one parent is a carrier of a gene mutation) do not display a clinical PKU phenotype characterized by hyperphenylalaninemia. Inheritance of two mutated copies (one from each parent) will result in the display of the PKU phenotype.
The absence of sperm in the seminal fluid. This may be due to a blockage or an impairment of sperm production.
B Cell (antigen) Receptor, the cellsurface receptor of B cells for specific antigen. It is composed of a transmembrane immunoglobulin molecule associated with the invariant Igα and Igβ chains in a noncovalent complex.
The precursors of antibody-forming plasma cells; these cells carry immunoglobulin and class II MHC (major histocompatibility complex) antigens on their surfaces.
Retinal damage that is an early sign of diabetic retinopathy. Indicated by bleeding, fluid accumulation and abnormal blood-vessel dilatation. Also known as simple (nonproliferative) retinopathy.
The core body temperature. Normal body temperatures can range from 35.6 C° (96°F) to 36.7 C° (98°F) but will increase by half to one full degree when a woman ovulates.
Steady infusion of longer-acting insulin, delivered by insulin pump over a 24-h period, to maintain a constant presence of insulin in the bloodstream in patients with diabetes mellitus
Also called basal insulin. Small quantity of insulin that is constantly present in the bloodstream in nondiabetic people
Granulocite, polymorphonuclear leukocyte, whose basophil granules contain heparin, histamine and other vasoactive amines. When located in tissues, these cells are denominated as mast cells.
Essential hypertension that exists for a long time and which is generally asymptomatic.
Oral treatment for people with hypertension that blocks the effects of adrenaline and reduces stress on cardiac tissue, thus reducing the workload on the heart and thereby lowering BP.
Insulin-producing cells located in the islets of Langerhans in the pancreas
A hormone produced by a pregnancy. Measurement of ßhCG is the blood test used to determine the presence of a viable pregnancy and follow early embryo development.
A shortened name for tetrahydrobiopterin (the cofactor of phenylalanine hydroxylase) that is often used especially in medical research.
Synonyms: tetrahydrobiopterin
Oral treatment for type 2 diabetes mellitus that helps to lower the blood glucose level by reducing glucose production in the liver and improving the physiological response to insulin secretion by the pancreas
Thin-walled hollow structure in early embryonic development before implantation; the embryo consists of a cluster of cells at one side.
One of the cells produced by cleavage of a fertilized ovum.
A fertilized ovum that fails to survive after implantation in the uterus.
Produced by the immune system of a pregnant woman to block the foreign antigens on the developing embryo, thereby preventing “rejection” of the pregnancy.
The primary source of energy; also called blood sugar
The quantity of glucose in a sample of blood, measured in milligrams per decilitre (mg/dl)
Discrete, portable electronic machine that people with diabetes use to monitor blood glucose on a daily basis. The user pricks the skin with a lancet to obtain a one-drop blood sample, which is placed directly on a test strip that is read by the machine; the blood glucose level is displayed numerically on a screen
Regular monitoring of the blood glucose level; a long-established aspect of daily diabetes management for patients with type 1 or type 2 diabetes mellitus; undertaken using test strips that change colour to give a visual indication of the blood glucose level; can be undertaken with a blood glucose meter
Analytical test to determine kidney function, by measuring levels of waste products that are produced following the breakdown of protein. With decreasing kidney function, the filtration of blood is impaired and the BUN level increases
Body mass index. A subject’s weight in kg divided by his or her height in m2. There are differences in BMI levels that constitute normal, overweight and obese situations, depending on the ethnic origin of the individual.
The tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells. There are two types of bone marrow: red marrow (consisting mainly of myeloid tissue) and yellow marrow (consisting mainly of fat cells). Red blood cells, platelets and most white blood cells are produced in red marrow; some white blood cells develop in yellow marrow. At birth, all bone marrow is red. With age, it is progressively converted to the yellow type, when about half of the bone marrow is red. Red marrow is found mainly in the flat bones, such as the hip bone, breast bone, skull, ribs, vertebrae and shoulder blades, and in the cancellous ("spongy") material at the proximal ends of the long femur and humerus bones. Yellow marrow is found in the hollow interior of the middle portion of long bones.
Blood pressure.
Description of a situation when there are frequent fluctuations in the patient’s blood glucose level, from low to high, and high to low
British Thyroid Association (United Kingdom)
A gonadotropin-releasing hormone (GnRH) agonist.
Connecting peptide; substance released into the bloodstream by the pancreas, in equimolar quantities to insulin; testing the C-peptide level indicates the level of insulin production in the pancreas
Abbreviation for coronary artery disease.
Class of antihypertensive treatment that reduces movement of calcium into arterial vessel walls and cardiac cells, thereby leading to arterial relaxation and reducing blood-vessel pressure.
Unit of measurement representing the energy provided by foods; carbohydrates and proteins contain 4 calories/g, alcohol has 7 calories/g and fat has 9 calories/g
An ART cycle in which ovarian stimulation or monitoring has been carried out with the intent of undergoing ART but which did not proceed to follicular aspiration or, in the case of a thawed embryo, to transfer.
The change that sperm cells undergo as they travel through the woman's reproductive tract, enabling the sperm to penetrate the oocyte.
The smallest type of blood vessel. Capillaries are important for the passage of oxygen and glucose between the bloodstream and the cells, and also for the passage of carbon dioxide and other waste products from cells into the bloodstream
Active ingredient in hot peppers that is included in topical preparations to relieve diabetic neuropathic pain
Key nutrient found in starchy or sugary foods
Dietetic method of meal planning, suitable for people with diabetes, in which the number of grams of carbohydrate in the food being served are counted
A child can only develop classical PKU if it inherits two faulty copies of the gene forphenylalanine hydroxylase, the enzyme that is deficient in people with PKU, from its parents (one copy from each parent). Individuals with one mutation (faulty copy) of the gene do not have PKU, but are said to be carriers of the mutation. Two carriers of a mutation in the gene forphenylalanine hydroxylase (that inhibits the activity of the enzyme) have:
Cluster of antigens with which antibodies react characterizing a cell surface marker.
Part of the T cell (antigen) receptor complex. CD3 transduces the antigen binding signal outside the plasma membrane into chemical signals (phosphorylation) in the cytoplasm.
Co-receptor on helper T cells that binds Class II MHC and participates in T cell activation by antigen.
Co-receptor on cytotoxic T cells that binds Class I MHC and participates in T cell activation by antigen.
Killing (lysis) of a target cell by an effector lymphocyte.
Immune reaction mediated by T cells in contrast to humoral immunity, which is antibody mediated. Also referred to as delayed-type hypersensitivity.
This term may refer to bone marrow or thymus; lymphoid organ where lymphocytes develop.
Secretions produced by the cervix, which vary in viscosity according to the phase of the menstrual cycle, and become penetrable by sperm in the days preceding ovulation.
A sample of the cervical mucus examined microscopically to assess the presence of estrogen and white blood cells, indicating possible infection.
A stricture or scarring of the cervical canal.
See gonadotropin releasing hormone antagonist.
Abbreviation for coronary heart disease.
A ßhCG level in the blood, suggestive of a pregnancy, that fails to continue to rise and does not lead to a clinical pregnancy
Congestive heart failure; condition that describes inadequacies in the circulation of blood through the heart.
A microorganism that may be transmitted by sexual contact. Chlamydia can exist in the reproductive tract without symptoms and may cause infertility. If present, both partners must be treated. The test for chlamydia involves obtaining a sample of cervical cells (similar to a pap smear).
Oral treatment for type 2 diabetes mellitus in the class known as sulphonylureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
Type of fat produced in hepatic cells and found in certain foods; circulates in the bloodstream and is important for hormone synthesis and cellular development
A prenatal test that detects chromosomal abnormalities such as Down's syndrome by examination of placental tissue that is removed by a needle inserted through the abdomen into the placenta. Its main advantage over amniocentesis is that it can be performed earlier - between the 10th and 12th weeks of pregnancy.
See Hashimoto’s disease
This is usually used to describe patients with mutations of the gene for phenylalanine hydroxylase that lead to very low, or absent, activity of the enzyme. It is likely that the individual will have severe hyperphenylalaninemia (blood levels of phenylalanine typically higher than 1200 μmol/L) and a phenylalanine-restricted diet will be necessary. It is unusual for patients with classical PKU to respond to treatment with sapropterin.
The division of a fertilized ovum. The embryo size remains unchanged; the cleavage cells become smaller with each division.
Clinical evidence of pregnancy including increasing ßhCG levels and either an ultrasound examination showing an intrauterine gestational sac or in cases of abnormal pregnancies, examination of tissue confirming an ectopic pregnancy or miscarriage.
A fertility drug that stimulates ovulation through the release of gonadotropins from the pituitary gland.
A group of genetically identical cells all derived from a single common ancestral cell and all with the same antigen-specific receptors as the parent cell.
Continuing medical education. Common term for medical education that helps physicians, surgeons and other key healthcare professionals to refresh their skills and knowledge.
Central nervous system: the brain and spinal cord.
The sequence of three nucleotides (bases) in DNA/RNA that codes for an individual amino acid, or provides an instruction to stop (a stop codon).
Some enzymes need another molecule to support their function: a cofactor. Tetrahydrobiopterinis a cofactor to phenylalanine hydroxylase (the enzyme deficient in PKU).
Higher function of the brain, concerned with generating and working with ideas, including thinking, learning, remembering and reasoning. There is some evidence that hypothyroidism is associated with impairment of cognitive function in later life, although such findings remain controversial.
Controlled ovarian hyper stimulation. Medical treatment to induce the development of multiple ovarian follicles to obtain multiple oocytes at follicular aspiration.
Sexual intercourse.
Thyroid nodule that does not concentrate radioactive isotopes in a thyroid scan. Non-functioning nodules have about 20% risk of malignancy
Treatment strategy in which different types of medicine are used together to manage blood glucose levels in patients with type 2 diabetes mellitus; examples include the use of two or three different oral hypoglycaemic drugs, or the use of oral hypoglycaemic agents together with injected insulin
A technique used in pre-implantation genetic diagnosis (PGD).
Molecules on the surface of some B-lymphocytes and macrophages, that recognize and combine with the C3b, C3d, C1q, and C4b components of the complement.
The complement system is the ancient and major defence system constituted by a group of about 20-30 serum proteins (10% total serum proteins).
Describes how patients follow a treatment regimen in accordance with the advice given to them by their health care professional. Thus, people comply well or badly with things such as medication (e.g. taking the right tablets in the right numbers at the right times), or special diets (e.g. eating the right foods in the right amounts and avoiding other foods, etc.).
Condition observed in infants born in areas where iodine deficiency disorder and hypothyroidism are common. May also be caused by thyroid agenesis/dysgenesis or a defect in thyroid hormone synthesis (dyshormonogenesis). Congenital hypothyroidism may also be associated with neck dysmorphology, cretinism and consumptive hypothyroidism (haemaingioma)
Medical treatment to induce the development of multiple ovarian follicles to obtain multiple oocytes at follicular aspiration.
The special gland that forms on the ovary at the site of the released oocyte and produces the hormone progesterone during the second half of the menstrual cycle. If pregnancy occurs, the corpus luteum persists and produces the progesterone necessary to support pregnancy.
Continuing Professional Development is the process of continually updating and improving knowledge and skills throughout one's professional life.
Waste product originating from dietary protein and muscles that is removed from the bloodstream and excreted by the kidneys. Creatinine levels increase in the blood in people with kidney disease, with higher levels indicating more severe renal dysfunction
Hypothyroidism in utero or soon after birth, due to any cause (most commonly due to severe iodine deficiency during pregnancy), may have major effects on the fetus. If untreated, cretinism may lead to physical stunting, bone and soft tissue dystrophy, and mental retardation in the infant. Cretinism is also known as infantile myxoedema. The clinical manifestation of cretinism depends on the severity and onset of hypothyroidism in the fetus or neonate
Freezing embryos, ova or sperm in liquid nitrogen to keep them viable.
Hidden testis'. Occurs when a testis is abnormally positioned high in the scrotum, often elevated into the abdomen
Cardiovascular
Cardiovascular disease. Diabetes is associated with direct alterations in normal cardiovascular function.
Membrane molecule that specifically binds cytokines.
Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators and have a variety of effects on other cells, e.g. Interleukin 1 (Il-1).
Disability-adjusted life year. The number of years of potential life lost because of ill health, disability or early death. DALYs are a measure of overall disease burden.
Disability-associated life years
Dietary Approaches to Stop Hypertension. Fruit, vegetable and whole-grain-rich diet that aims to reduce the development of hypertension.
Phenomenon recognised in people with diabetes mellitus in which a rise in blood glucose is observed between 4am and 8am
Diastolic blood pressure; pressure of blood against arterial walls during cardiac relaxation phase (phase between heart beats).
An androgenic hormone produced by the adrenal gland in both sexes.
Also known as monodeionodinase or iodide peroxidase. Enzyme involved in deactivation or activation of T4 to T3
A T cell-mediated reaction to antigens, which takes 24-48 hours to develop fully, and which involves release of lymphokines and recruitment of monocytes and macrophages. Also called cell-mediated immunity. The cells involved in thia function are defined: TDTH.
A mutation where DNA (one or more base pairs) is removed from the gene.
The number of deliveries expressed per 100 initiated cycles, aspiration cycles, or embryo transfer cycles. The denominator (initiated, aspirated, or embryo transfer cycles) must be specified. It includes deliveries that resulted in a live birth and/or stillbirth.
Cell with long processes (dendrites) located in the dermis. Its main function is to process antigen material and carry it on the surface in order to present it to other cells of the immune system. Dendritic cells work as antigen-presenting cells.
A broad term to encompass the physical and cognitive changes accompanying growth, usually applied to young people. Optimizing nutrition to maintain normal development is important: iodine deficiency remains a co-factor in the development of thyroid disorders in some countries
Study conducted in the 1980s and 1990s in people with type 1 diabetes mellitus, which showed the benefits of managing diabetes by an intensive regimen, involving multiple daily insulin injections/insulin pump administration, in conjunction with multiple daily measurements of the blood glucose level. Compared with previous treatment strategies, intensive therapy significantly reduced the occurrence of some of the main diabetes-associated complications. This approach also slowed the progression of any such complications when they occurred
Healthcare professional who supports people with diabetes to help them to manage their health and wellbeing effectively by adopting good strategies for blood sugar, blood pressure and dietetic control
Condition characterised by frequent micturition, polyuria, excessive thirst and weakness, but not abnormalities in blood glucose levels. Diabetes insipidus may be caused by pathologies relating to the kidney or the pituitary gland
Condition characterized by hyperglycaemia, which develops because the body is unable to use blood glucose for energy. Type 1 diabetes develops when insulin production ceases in the pancreas; type 2 diabetes develops when the pancreas is unable to make enough insulin to meet physiological needs, or insulin is being made but is not being utilized properly
A study conducted between the late 1990s and early 2000s in which people with prediabetes who were also overweight/obese, who lost 5–7% of their body weight through basic exercise and dietary regimens, had a 58% lower risk of developing full-blown type 2 diabetes compared with those who did not follow a low-fat calorie-controlled diet that included 5 sessions of basic exercise (walking 30 minutes per day) per week. Participants who received metformin rather than lifestyle-focused interventions reduced their risk of developing type 2 diabetes by 31%
Neuropathic condition associated with muscle wasting, pain and weakness. Although its overall prevalence is much lower than that of diabetic peripheral neuropathy, some people with diabetes (particularly type 2 diabetes) may present with acute, progressive, asymmetrical weakness and muscular pain in the proximal lower limbs. There are many alternative names for diabetic amyotrophy, such as diabetic lumbosacral radiculoplexus neuropathy or Bruns-Garland syndrome
Life-threatening condition in which the diabetic patient is rendered unconscious following the development of hyperglycaemia or hypoglycaemia
Undiagnosed or poorly controlled diabetes is associated with higher risk of developing chronic complications involving different organ systems, including: the ocular system (e.g. diabetic retinopathy, glaucoma); cardiovascular disease (e.g. coronary artery disease, stroke); peripheral vasculature (e.g. diabetic ulceration); neural pathways (e.g. diabetic neuropathy); renal disease (e.g. diabetic nephropathy); orthodontic disease (e.g. gingivitis). The development of acute complications may also occur, such as diabetic ketoacidosis, hyperosmolar non-ketotic coma, lactic acidosis and hypoglycaemia. The best way to avoid or reduce the development of these conditions is to maintain good lifetime control of blood glucose, blood pressure, cholesterol levels and body weight/fitness
One of the manifestations of autonomic neuropathy of the gastrointestinal tract; the colonic motility disorders manifest as diarrhoea or constipation. Diabetic diarrhoea is generally nocturnal or postprandial and is often associated with fecal incontinence
Ocular disease affecting people with type 1 or type 2 diabetes, caused by damage to the small blood vessels in the retina; may cause visual loss/disturbance
Breakdown of skin tissue, typically on the leg or foot; often a secondary consequence of lost sensation due to peripheral neuropathy. The person has a decreased perception of any trauma to the affected area, together with musculoskeletal or motor weakness; some people experience issues with autonomic neuropathy (which may reduce perspiration, and lead to dry or cracked skin). In addition, peripheral arterial disease or atherosclerosis may be more common in some people with diabetes who have concomitant health issues or a history of smoking, compared with other diabetics. Finally, venous hypertension or insufficiency may lead to the development of ulcers of a venous origin; poorly controlled diabetes or concomitant health problems may affect the depth of ulceration and the speed of healing
Having the capacity to cause diabetes; often used as a description for drugs that cause hyperglycaemia (e.g. thiazides, beta-blockers, statins)
Symptom characterized by an increased number of daily bowel movements and loose and watery stools. Diarrhea can be caused by a variarity of issues: in PKU patients diarrhea can occur when low blood Phe concentrations persist for a longer period of time. A longer period of low phenylalanine concentrations may cause a decrease in growth velocity, skin atrophy (which may be falsely interpreted as eczema), and diarrhea as a sign of the gut not being able to synthesize new cells or having a poor function at that time. On the other hand, diarrhea, likewise vomiting and fever, may cause catabolism and a subsequent increase in blood plenylalanineconcentration.
A procedure whereby the cervix is dilated and the uterine lining is scraped to remove fetal tissue, polyps or fibroids, and for diagnostic purposes.
Thyroid cancer that has metastasized. Should not be confused with differentiated thyroid cancer (DTC)
Pharmacologic agents that have antihypertensive effects by a renal action in which excess salt and/or fluid is removed.
Diabetes mellitus. A group of metabolic conditions characterised by hyperglycaemia due to defects in insulin secretion, action or both. It is important to ensure that blood pressure is effectively monitored in people with DM (type 1 or type 2).
Ova that are removed from the ovaries of one woman for use by another.
Deposition in the vagina near the cervix of sperm from a donor other than the partner. The sperm may also be deposited intrauterine. Often used in combination with pharmaceutical ovarian stimulation to improve timing and conditions for gamete interactions.
Sperm collected from a man who is not the woman's partner, to be used for insemination. The sperm is usually obtained in a frozen state from a commercial sperm bank.
An important neurotransmitter in the CNS. Dopamine is involved in many CNS functions, including fine control of movement (dopaminergic cells are lost in Parkinson’s Disease) andcognition. Impairment of systems in the forebrain regulated by dopamine through loss of myelinhas been proposed as one mechanism by which long-term hyperphenylalaninemia may damagecognitive function.
Tyrosine is required for the biosynthesis of dopamine. High levels of phenylalanine in the blood inhibit the entry of tyrosine into the brain (phenylalanine and tyrosine each compete for the same large neutral amino acid carrier in the blood-brain barrier). This may be another way by which hyperphenylalaninemia adversely affects the function of dopaminergic systems in the brain.
Differentiated thyroid cancer is a cancer of follicular epithelial cells within the thyroid and is the most common thyroid cancer observed. DTC is treated with surgery, which requires precision and specialist training; complete surgical resection is a key determinant of eventual outcome. Postoperatively, some patients require radioactive iodine therapy
A condition observed in some people with diabetes in which shortening and thickening of the fingers and the palm of the hand occur, and the fingers curve towards the palm
A dust cell (or alveolar macrophage) is a type of macrophage found in the pulmonary alveolus, near the pneumocytes, but separated from the wall. Dust cells are another name for monocyte derivatives in the lungs that reside on respiratory surfaces and clean off particles such as dust or microorganisms.
Abnormal pain during menstruation.
Aberrant physical development, observed on physical examination. Congenital hypothyroidism might lead to dysmorphology in affected newborn.
Difficult or painful intercourse.
Ratio of mitral peak velocity of early filling (E) to early diastolic mitral annular velocity.
European Accreditation Council for Continuing Medical Education
Innate response to antigen which requires protein synthesis and involves inflammation processes, but is not antigen specific.
In the context of PKU, people who were put on a phenylalanine-restricted diet in the early days or weeks of life, in time to mitigate the adverse impact of elevated blood phenylalanine ondevelopment.
Ultrasonographic examination that indicates blood flow in the cardiac chambers and evaluates the structure and function of the heart and heart valves.
An embryo implanting and developing outside the uterus, usually in a fallopian tube, on an ovary, or in the abdominal cavity.
Eczema is a skin condition characterized by inflammation, dryness, flaking and itching. Typically, formation of vesicles (blisters) is followed by erythema (reddening), edema (swelling), formation of raised areas of skin (papules) and then thickening and scaling of skin. Eczema is a common feature of PKU that was not controlled by the phenylalanine-restricted diet soon after birth.
Activated cell which participates in antigen elimination.
Surgical removal of an ovum from one woman for in vitro fertilization (IVF). The resulting embryo is then transfered into another woman.
A surgical procedure to obtain ova from follicles in the uterus for use in IVF. Usually involves ultrasound and a small needle passed though the vaginal wall.
The seminal fluid and sperm released through the penis during orgasm.
Ultrasonographic examination used to evaluate the structure and function of the heart and heart valve.
When an oocyte and sperm join together, they create an embryo which may develop into a fetus.
A procedure during which an embryo is placed into the uterus after IVF with the goal of implantation and pregnancy.
Environmental chemicals that may mimic hormones and thereby cause disruption in endocrine function, including thyroid function
Gland containing specialist cells that release hormones into the bloodstream; the islets of Langerhans in the pancreas are endocrine glands that secrete insulin (beta cell), glucagon (alpha cell) and somatostatin (delta cell)
A process where cells absorb material (molecules such as proteins) from the outside by engulfing it with their cell membrane. All cells of the body use it because most substances important to them are large polar molecules, and thus cannot pass through the hydrophobic plasma membrane.
Antigen synthesized in the cell cytoplasm, present on major histocompatibility complex (MHC).
A procedure whereby a small sample of the uterine lining is removed and sent to pathology for microscopic evaluation.
Growth of endometrial tissue outside the uterus (e.g. peritoneum, bowel surface, etc.) causing irritation, pain, adhesions, infertility and other pelvic abnormalities.
Enzymes are proteins that act as catalysts for biochemical reactions essential to life.
A polymorphonuclear leukocyte with large eosinophilic (i.e. red) cytoplasmic granules. Eosinophils have Fc receptors for IgE and are efficient at killing worm parasites.
Skin folds of the upper eyelids covering the inner corners of the eyes.
A narrow, convoluted tube responsible for the maturation of sperm prior to ejaculation, connecting the efferent ducts from the rear of each testicle to its vas deferens.
Epilepsy is a condition in which uncoordinated electrical activity within the brain leads to unconsciousness and convulsions. This is a common feature of PKU if not controlled by thephenylalanine-restricted diet soon after birth.
Epithelioid histiocytes (Epithelioid cells) are activated macrophages resembling epithelial cells: elongated, with finely granular, pale eosinophilic (pink) cytoplasm, central, and ovoid nucleus (oval or elongate). The presence of epithelioid histiocytes may characterise some pathologic conditions, mainly granulomatous inflammation.
Part of antigen bound by antibody or T-cell receptor (TCR).
The repeated inability to get or keep an erection firm enough for sexual intercourse. Sometimes used interchangeably with impotence, even if the latter is a more comprehensive definition.
Endocrinology Society
European Society of Endocrinology
European Society of Hypertension. See http://www.eshonline.org/
European Society of Molecular Endocrinologists
Amino acids that cannot be synthesized within the body and must be obtained through the diet.Medical foods are often an important source of essential amino acids for patients with PKU.
Hypertension associated with lifestyle factors (e.g. obesity, tobacco use); also known as primary hypertension; hypertension for which apparent physiological cause is not known.
The most potent naturally occurring estrogen produced by the ovary.
The generic term for the primary steroid hormones produced by the ovaries from puberty to menopause.
European Thyroid Association
Normal blood glucose level
Term used to describe a person who has normal thyroid function
A method of meal planning used in diabetes management, where carbohydrates, meats/meat alternatives and fats are grouped according to their nutritional content. Guidance on portion size and how to substitute one food for another (in order to maintain appropriate nutrition) is given
Term that describes several of the higher functions of the brain. Examples of executive function include exercising will, insight, or judgement, coordinating use of resources (such as memory) to achieve a desired goal, planning tasks, generating strategies or placing complex activities in order to complete a larger task, correcting errors, troubleshooting, adapting behaviour in the light of new information, generating behavioural responses based on actions that are not already well learned, or performing well in situations that require overcoming temptation or force of habit. Studies in populations with iodine deficiency and related thyroid disorder have found reduced executive function, increased depression/anxiety and poor working memory, on average, compared with populations without iodine deficiency and related thyroid disorder.
Antigen synthesized outside the APC, phagocytosed or endocytosed into vescicles, and processed for presentation on class II major histocompatibility complex (MHC).
Genes include exons and introns in their DNA sequence. Exons represent the parts of the gene that will be represented in the final protein. The portions of RNA corresponding to introns in the gene will be removed in order to produce the final messenger RNA that will be translated into the protein.
Protrusion of the eye from the orbit, typically associated with hyperthyroidism (Graves’ disease)
Fragment of antibody containing the antigen-binding site.
Either of a pair of tubes that conduct ova from the ovary to the uterus. Normal fertilization takes place within this structure.
A method of monitoring a person’s blood glucose level after an 8–12 h fast, to diagnose or monitor prediabetes or diabetes; usually undertaken in the morning
A blood glucose level that is deemed to be high after a period of fasting ≥8 h
Part of the antibody responsible for its effector functions.
A receptor on a cell surface with specific binding affinity for the Fc portion of an antibody molecule. Fc receptors are found on many types of cells.
The probability of achieving a pregnancy within one menstrual cycle.
The capacity of a man, woman or couple to achieve a pregnancy within one menstrual cycle, which results in a live birth.
The process during which a sperm penetrates an oocyte, fusion of genetic material occurs, and an embryo develops.
The developing human organism after the embryo stage from the 9th week of pregnancy to the moment of birth.
A non-cancerous smooth muscle tumor found within the wall of the uterus. Also known as a myoma.
The delicate ends of the fallopian tubes that help pick up the released oocyte from the ovary.
A method of examining ocular vasculature that is undertaken by injecting contrast media (dye) into a vein, then photographing the passage of the dye through the ocular blood vessels
A cyto-genetic technique used to detect chromosomal abnormalities. Fluorescent-stained probes are used to identify the presence or absence of specific DNA sequences on chromosomes. Used in pre-implantation genetic diagnosis (PGD). Often used for pre-natal genetic counseling when a specific disease may be carried by a parent.
This is a method used in some countries for newborn screening for PKU and other inherited metabolic disorders. Like other methods, it measures the phenylalanine level in the blood. It has been replaced with tandem mass spectrometry in many countries.
Fluid-filled structure in the ovary which contains the oocyte and from which the oocyte is released at ovulation or retrieved during the treatment cycle.
Hormone secreted by the pituitary gland responsible for stimulating follicular development during the first half of the menstrual cycle. Pharmaceutical forms of FSH (both urinary and recombinant) are used in ovarian stimulation cycles.
Fluid inside the follicle that cushions and nourishes the ovum.
The first half (pre-ovulation) portion of the woman's menstrual cycle. Marked by growth of the endometrial lining of the uterus, maturing of ova in follicles and elevated estrogen levels.
Thyroid follicular epithelial cell neoplasm, not belonging to papillary thyroid carcinoma, with evidence of capsular and/or vascular invasion. Second most common form of thyroid cancer, which affects the follicular cells.
In the synthesis of a protein, DNA is first transcribed to messenger RNA, made of a string of nucleotides (bases). In the genetic code, a set of three adjacent bases (a codon) in a strand of RNA codes for each amino acid used in a protein. Codons also provide other information, such as when to stop. The ‘reading frame’ consists of a sequence of these codons. A frameshift mutationoccurs when a number of base pairs not divisible by three is inserted into or deleted from the DNA. This changes the reading frame from that point onwards. For example, consider the following strand of RNA, with bases shown as a reading frame of six codons ending with a stop codon:
… UUA UAC AGU AAA GCC UAG
Leucine Tyrosine Serine Lysine Alanine STOP
Now imaging that a single additional base (C)
is inserted (a missense mutation, shown in red):
… UUC AUA CAG UAA AGC CUA
Phe Isoleucine Glutamine STOP Not transcribed
Blood test that analyses the number of blood glucose molecules that are linked to protein molecules and calculates the average glycaemic level over a 3-week period
A sugar, found in fruits and honey; energy value is 4 calories/g
An early term for PKU, named after Asbjorn Følling, who was the first to discover a link between excess phenylalanine and the syndrome of progressive and severe mental retardation we now know as PKU.
A reproductive cell, either a sperm or oocyte/ovum.
A procedure similar to IVF except that washed sperm and harvested ova are placed inside a catheter, separated by an air bubble, and then transferred inside a woman's fallopian tube, where fertilization takes place. This can be done only in women with at least one normal tube and requires a laparoscopy. It is now rarely used as pregnancy rates with IVF are the same or higher, and with the latter no laparoscopy is required.
A neuropathic condition that negatively affects the digestion of food, leading to gastric symptoms such as nausea, vomiting, bloating and discomfort; gastroparesis also complicates effective blood-glucose control
Gestational diabetes mellitus
A sequence of DNA that determines the structure of a particular protein.
Treatment for a disease that involves changing the patient’s genetic code itself. For example, experimental studies are looking into gene therapy that provides a working copy ofphenylalanine hydroxylase for patients with PKU, who are lacking this enzyme. However, these studies are highly speculative at present and years away from use in the clinical management of PKU.
Each individual is unique in terms of their DNA. Genetic heterogeneity is a term used to describe the range of mutations in a particular gene between individuals within a population. Many different gene mutations give rise to PKU, so that the population of people with the disease are said to display a high degree of genetic heterogeneity.
The pattern of mutations present in particular genes, at the level of the DNA of an individual.
Concentration of rapidly dividing B cells in the spleen and lymph nodes.
A woman who carries a pregnancy to term for a couple. The embryo formed from the ovum and sperm of the couple who are the intended parents. The carrier has no genetic relation to the child.
A form of diabetes mellitus that develops during pregnancy and usually resolves immediately on delivery (although affected women have an increased lifetime risk of developing type 2 diabetes in later life). Gestational diabetes is often managed with dietary control/meal planning and increased exercise, although some women require insulin therapy
Long-acting insulin formulation that has a hypoglycaemic effect within 1 h postinjection and works continuously for a further 23 h
Increase in intraocular fluid pressure that may result in visual disturbance or loss
Oral treatment for type 2 diabetes in the class known as sulphonylureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
Oral treatment for type 2 diabetes in the class known as sulphonylureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
Measurement that records the ability of the kidney to filter and remove waste products
Looped blood vessels in the kidney that filter waste products from the bloodstream
Hormone produced in the pancreas, by alpha cells, that raises blood glucose levels. Glucagon injections can be used to treat severe cases of hypoglycaemia
A simple form of sugar that provides energy; energy value is 3.4 calories per g
Oral treatment for type 2 diabetes in the class known as sulphonylureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
System of ranking carbohydrate-rich foods by their effect on blood glucose levels; foods with a low glycaemic index (e.g. whole grain-based foods) have a slower impact on blood glucose than foods with a high glycaemic index (e.g. refined carbohydrates)
Polysaccharide, stored in muscles and liver tissue, which forms glucose on hydrolysis
A source of protein derived from milk whey that is free of phenylalanine. Glycomacroprotein is sometimes used as a dietary protein supplement (medical food) for people with PKU.
The presence of glucose in urine
Abnormal swelling of the neck or larynx, resulting from enlargement of the thyroid gland; often due to underlying thyroid disease.
Diffuse smooth goitre describes a thyroid gland that is larger than normal but feels smooth. Typically, smooth goitre is observed in people with colloid goitre, Graves’ disease or Hashimoto’s disease.
Nodular goitres nay be multinodular (where the thyroid feels lumpy) or may involve a single nodule (which could be a fluid-filled cyst, a solid or semi-solid tumour. Many people with a goitre may be euthyroid
Molecules located on the cell membrane that bind gonadotropins and activate the cell’s response. The variability in gonadotropin receptors, on a genetic basis, influences reproductive function physiology and response to ovarian stimulation in ART.
A hormone released from the hypothalamus that controls the synthesis and release of the pituitary hormones FSH and LH that stimulate the ovaries.
Synthetic compounds that interact with the GnRH receptor to stimulate the release of FSH and LH from the pituitary gland. Usually administered to control ovarian stimulation during IVF cycles. When administered over a 10-14 day period, GnRH agonists lead to the shedding of the GnRH receptors on the pituitary gland, thereby preventing spontaneous ovulation. This is essential during an IVF cycle to ensure harvesting of the oocytes from the unruptured follicles. Examples include leuprolide and buserilin.
Synthetic compounds that compete with natural GnRH and block the release of LH and FSH. Typically administered mid-luteal phase to prevent LH surge and endogenous ovulation as well as preventing arrest of follicle maturation and asynchrony of maturation. They act within a few hours of administration and can therefore be used only when there is a risk of LH surge. Examples include ganirelix and cetrorelix.
General practitioner/family physician
A cytolytic protein found in the granules of CD8 T-cells and Natural Killer cells.
Autoimmune disease that is commonly observed in people with Graves’ disease, causing orbitopathy or exophthalmos
An autoimmune thyroid disorder that usually causes hyperthyroidism, due to the overproduction of antibodies that act like TSH. These antibodies trigger overactivity of thyroid hormone production in the thyroid gland, which results in hyperthyroidism. Named after Dr Robert Graves
In a medical context, guidelines usually refer to documents detailing agreed best practice in a given area of medicine. Guidelines usually contain detailed reviews of the medical evidence supporting particular treatments, with recommendations on their use. Physicians are not absolutely constrained to follow guidelines, however, and may exercise their clinical judgement in individual cases.
A method of mass newborn screening for PKU that is still in use today in some countries. The test involves applying a drop of blood from a heel prick to filter paper, which is sent to the laboratory. Small circles of paper from within the blood spot are punched out and applied to the surface of an agar gel containing the bacterium, Bactilis subtilis, which requires phenylalanine for growth. The gel also contains β-2-thienylalanine, which suppresses bacterial growth by inhibiting the use of phenylalanine by the bacteria. Increasing the local phenylalanine concentration (i.e. from a blood spot from an infant with hyperphenylalaninemia) overcomes the inhibition of growth and a ring of bacterial growth appears around the positive sample within one day. The diameter of the bacterial colony provides an estimate of the concentration of phenylalanine in the sample.
In many countries, the Guthrie test has been overtaken by newer methods such as Tandem Mass Spectrometr
A compound, usually of low molecular weight, that is not itself immunogenic but, after conjugation to a carrier protein or cells, becomes immunogenic and induces antibody production, which can bind the hapten alone in the absence of carrier.
Also known as chronic autoimmune thyroiditis, this is the most common form of hypothyroidism. Hashimoto’s disease is associated with Tg/TPO thyroid antibody positivity
Glycosylated haemoglobin
Healthcare professional
Chronic condition in which the heart cannot pump blood efficiently.
Blood for newborn screening for PKU and other diseases is usually taken from the heel of a baby, after pricking it with a needle.
A class of T cells which helps trigger B cells to make antibody against thymus-dependent antigens. Helper T cells also help generate cytotoxic T cells.
We each have two copies of each gene. A subject with a particular mutation of one gene, but not the other, is said to be heterozygous for that mutation.
Also known as HDL cholesterol. Blood lipid that transports excess cholesterol to the liver for excretion; sometimes referred to as ‘good cholesterol’, having a high HDL cholesterol level may be cardioprotective
Presence of excessive body and/or facial hair, commonly observed in women with polycystic ovarian syndrome (PCOS).
Molecules in the granules of mast cells which, when released, among other effects, dilate blood vessels and cause smooth muscle contraction.
A histiocyte is a cell that is part of the human immune system, a tissue macrophage cell. All categories of histiocytes are derived from the bone marrow by multiplication from a stem cell. The derived cells migrate from the bone marrow to the blood as monocytes. They circulate through the body and stop in various organs where they undergo differentiation into histiocytes which are part of the mononuclear phagocytic system (MPS).
We each have two copies of each gene. A subject with an identical mutation of both genes is said to be homozygous for that mutation.
Phase in which insulin secretion resumes temporarily in people within a few weeks following a diagnosis of type 1 diabetes mellitus
Chemical compound produced in a specific gland and released into the bloodstream to regulate or trigger specific bodily functions. The hormone insulin, produced in the pancreas, controls glucose levels
A combination of estrogen and progesterone for the alleviation of menopausal symptoms.
Nodule with increased radioactive isotope uptake on the thyroid scan, often associated with hyperthyroidism
A common shortened name for hyperphenylalaninemia.
Health-related quality of life; describes the effect that a medical condition (and/or its therapy) has on a patient’s physical and occupational function, psychological state, level of social interaction and somatic sensation.
A hormone that is produced in early pregnancy to keep the corpus luteum producing progesterone. The presence of the beta subunit (beta-hCG) in the blood or urine indicates a positive pregnancy test. Administration of pharmaceutical preparations of hCG, (either urinary or recombinant) in infertility treatment during a stimulated cycle, triggers ovulation and enhances the production of progesterone.
Their presence indicates exposure to HIV. Both partners are often screened for these antibodies as part of a routine infertility, pre-pregnancy work-up.
Also called menotropin, it is a pharmaceutical product containing human FSH and LH. It is extracted from the urine of post-menopausal women. HMG is used for ovarian stimulation cycles. Highly purified preparations of HMG have been introduced to reduce presence and effects of urine-derived proteins not associated with the gonadotropins.
Any immune reaction that can be transferred with immune serum is termed humoral immunity (as opposed to cell-mediated immunity). In general, this term refers to resistance that results from the presence of specific antibody.
A swelling in the testes containing fluid.
An excessively high level of blood glucose
A level of insulin in the blood that is abnormally high, due to an overproduction of insulin. See Insulin resistance
Abnormally high lipid (and cholesterol) levels in the blood
Medical emergency characterised by a high blood glucose level that leads to high blood osmolarity without the presence of ketones in urine or blood. Without treatment, it can be fatal
Elevated levels of phenylalanine in the blood. The level of blood phenylalanine that divides the normal range of blood phenylalanine from hyperphenylalaninemia in guidelines varies with age.
State of reactivity to antigen that is greater than normal due to the antigenic challenge; it denotes a deleterious outcome rather than a protective one. Hypersensitivity responses are directed against non-dangerous antigens (allergens or grafts) or against persistent pathogens (Lyme arthritis).
Persistently raised high blood pressure that, if untreated, may lead to organ damage (e.g. retinopathy, renal disease), arterial bleeding, cardiac disease, stroke or eclampsia in pregnant women. Normal adult blood pressure is 120 mmHg (systolic pressure; when the heart beats) and 80mmHg (diastolic pressure; when the heart relaxes). Hypertension is generally defined as when the person’s systolic blood pressure is ≥140 mmHg and/or their diastolic blood pressure is ≥90 mmHg. Where possible, repeated blood-pressure readings, ideally involving ≥24-h ambulatory monitoring, should be undertaken to assess levels throughout normal daily activities before a diagnosis of hypertension is made. Generally, hypertension is often asymptomatic, although some people describe experiencing headache, shortness of breath, chest pain, heart palpitations, nose bleeds and/or dizziness.
Retinal blood vessel damage caused by untreated hypertension.
Also known as overactive thyroid or thyrotoxicosis. Hyperthyroidism describes a state where the thyroid produces too much of the hormone thyroxines (T4 and/or T3). Common causes include Graves’ disease, toxic multinodular goitre or subacute thyroiditis
Increased muscle tone
Abnormally low blood glucose level (usually ≤70 mg/dl in diabetes patients or
Inability to recognize the warning signs of hypoglycaemia, such as shakiness, perspiration or hunger; may occur if hypoglycaemic episodes occur frequently
A disorder affecting men and women that can lead to infertility. It is caused by a lack of GnRH and therefore a lack of sex hormones with subsequent deficiency of gametogenesis.
Low sperm production.
Serum levels of thyroid hormones are regulated by the hypothalamic-pituitary-thyroid axis. In the brain, the hypothalamus secretes thyrotropin releasing hormone (TRH), which controls the secretion of thyrotropin (also known as thyroid stimulating hormone, TSH) by the pituitary gland. TSH stimulates the thyroid gland to synthesize and secrete thyroid hormones (T4 and T3) Thyroid hormones provide feedback to the hypothalamus and pituitary gland resulting in inhibition or stimulation of TRH and TSH release depending on the level of thyroid hormone, leading to normal thyroid hormone homeostasis
Brain region that regulates the production and secretion of TRH
A condition where not enough thyroid hormones are produced for the body’s needs. Primary hypothyroidism is caused by loss of functional thyroid tissue, defects in thyroid hormone biosynthesis and release (caused by iodine deficiency, administration of certain drug classes, or congenital deficits). Secondary (central) hypothyroidism is associated with functional deficits in TSH; consumptive hypothyroidism is rare and is associated with haemiangiomas or increased type 2 or type 3 deiodinase activity, which degrades T4/T3
Decreased muscle tone
Surgical removal of the uterus.
An x-ray procedure during which a contrast medium is introduced into the uterus through the cervix and passed through the fallopian tubes to determine if they are open. This also shows the configuration of the uterus (any irregularities, fibroids, etc).
Minimally invasive fiber optic visualization of the inside of the uterus through the cervix with a video-endoscope to evaluate and treat abnormalities inside the uterine cavity.
International Atherosclerosis Society. See http://www.athero.org/
Iodine deficiency disorder
International Diabetes Federation
The term used when no reason can be found to explain the cause of a couple's infertility.
Impaired glucose tolerance
Ischaemic heart disease
International Insulin Foundation
Hypersensitivity tissue reaction occurring within minutes after the interaction of antigen and antibody.
Antigen bound to antibody.
Congenital or acquired inability of the immune system to function correctly, usually due to lack of a molecule or cell.
A substance capable of inducing an immune response (as well as reacting with the products of an immune response). Also known as antigen.
A general term for all antibody molecules. Each Ig unit is made up of two heavy chains and two light chains and has two antigen- binding sites.
A condition in which a fasting blood glucose analysis reveals a blood-glucose level that is abnormally high (100 mg/dl to 125 mg/dl) but not at a level that confirms a diagnosis of diabetes. Impaired fasting glucose is one of the conditions known as prediabetes. People with an impaired fasting glucose are at a heightened risk of developing type 2 diabetes mellitus
A condition in which blood glucose levels are abnormally high (between 140 mg/dl and 199 mg/dl, 2 h after the start of an oral glucose tolerance test) but not at a level that confirms a diagnosis of diabetes mellitus. Impaired glucose tolerance is one of the conditions known as prediabetes. People with impaired glucose tolerance are at heightened risk of developing type 2 diabetes mellitus. Former names for impaired glucose tolerance include ‘subclinical’, ‘latent’ or ‘borderline’ diabetes
The embedding of the embryo in the endometrium or lining of the uterus.
A comprehensive term which defines the inability of a male to have intercourse. It can be induced by both physical and psychological etiologies and causes infertility.
A procedure during which an oocyte is removed from a mature follicle and fertilized by sperm in the laboratory, then transferred to the uterus after developing to an appropriate stage in an incubator over 3-5 days. It is the treatment of choice for women with blocked, severely damaged or absent fallopian tubes. It is also indicated in cases of endometriosis and male factor infertility, and for longstanding or unexplained infertility when other treatments have failed.
A weakened cervix with an inability to stay closed for the duration of the pregnancy; a frequent cause of prematurity.
A condition defined as: inability to conceive or carry a pregnancy to term after one year of appropriately timed, unprotected intercourse.
Process of defence to tissue injury. It may be induced by the immune system. Inflammation includes movement of blood and leukocytes into the injured area. It is characterized by heat, redness, swelling and pain.
Th1 cell, which activates macrophages to kill vesicular pathogens.
Powdered formulation of insulin that is delivered via a nebulizer; efficacy is believed to be equivalent to rapid-acting injectable insulin
Consecutive insulin injections are administered in different places, to prevent lipodystrophy
Immunity present from birth and not dependent on prior antigen exposure. Innate immunity includes physical and chemical barriers to infection, phagocytes, complement, and natural killer cells.
Injection of sperm into the uterus or cervix.
A mutation where additional DNA (one or more base pairs) is added to the gene
A hormone made by beta cells in the pancreas and secreted into the bloodstream to allow use of glucose for energy. Insulin is administered via injection, insulin pump or inhaled formulations, in people who are unable to make adequate quantities of insulin (i.e. people with diabetes)
Changing the insulin dose to account for the size and nutritional composition of a meal, the level of activity, the presence of certain illnesses or the blood glucose level
Insulin lispro is a fast-acting insulin analogue. It has one primary advantage over regular insulin for postprandial glucose control: it has a shortened delay of onset, allowing slightly more flexibility than regular insulin
Device that is the size and shape of an ink pen that contains cartridges of insulin, for injecting insulin and transporting it discreetly
Electronic device similar in shape to a mobile phone that is programmed to administer continuous small doses of insulin, and higher bolus doses (e.g. at mealtimes or due to hyperglycaemia), via a flexible plastic tube connected to a small subcutaneous needle
Transmembrane receptors on cells (in the large class of tyrosine kinase receptors), activated by insulin, insulin-like growth factor (IGF)-I and IGF-II. Insulin receptors permit a cell to bind insulin in the blood, thereby allowing glucose uptake for energy provision
Inability to use insulin effectively. May be linked to hypertension, obesity or hypercholesterolaemia
An acute hypoglycaemic episode that typically occurs after an insulin overdose, characterized by dizziness, weakness, trembling and sweating. If untreated, insulin shock may lead to convulsions and/or coma
Former name for type 1 diabetes mellitus
Synonyms: IDDM
Pancreatic tumour confined to the beta cells; often associated with excess insulin production and the development of hypoglycaemia
Heterodimeric cell-surface proteins involved in cell-cell and cell-matrix interactions. They are important in adhesive interactions between lymphocytes and antigen-presenting cells as well as in lymphocyte and leukocyte migration into tissues.
Method of managing diabetes by maintaining euglycaemia by frequent insulin administration (injection or insulin pump), meal planning, regular blood glucose monitoring and close partnership between the person with diabetes and their healthcare team. Previously known as tight control
A group of proteins with antiviral activity and capable of enhancing and modifying the immune response.
Glycoproteins secreted by a variety of leukocytes which have effects on other leukocytes.
Insulin formulation that begins to lower blood glucose within 2 h postinjection, with its peak effect 6–12 h postinjection; continues to work up to 16–24 h post injection. Also called lente and NPH insulin
Periodic pain in the leg muscles, often occurring during periods of activity (e.g. walking). Typically caused by obstructions in arterial circulation
Microsurgical injection of a single sperm into the cytoplasm of an oocyte ensuring that fertilization has taken place. It is indicated in ART when there is a low sperm count, absence of sperm in the ejaculate, an abnormally high percentage of morphologically atypical sperm, or after an irreversible vasectomy. If necessary, sperm can be retrieved from the testicle.
The introduction of washed sperm directly into the uterus through the cervix by means of a catheter. It is indicated in ART in cases of impotence, anti-sperm antibodies, when there is a cervical mucus problem or when there is unexplained infertility. IUI is a less expensive and less intrusive alternative to IVF and is a reasonable first choice for infertility treatment for younger couples.
DNA sequences within a gene that are not represented in the final protein. RNA sequences arising from introns will be removed during processing, to form the messenger RNA that will be used for translation into protein
Iodine is an essential component of thyroid hormone; dietary iodine is absorbed in the small intestine and transported in plasma to the thyroid. Good dietary sources of iodine include seafood, dairy produce, iodised salt; the RDI is 150 μg; intakes < 50μg/day are associated with goitre
See IDD
“Intelligence Quotient”, a commonly used index of intelligence derived from tests. The IQ is the ratio of a person’s mental age to their physical age, expressed as a percentage.
Abbreviated as IHD; also known as coronary heart disease (CHD) or coronary artery disease (CAD). The leading cause of death globally. Occurs when blood flow to the heart muscle is decreased by a partial or complete blockage of the coronary arteries. People with diabetes may be at increased risk of developing IHD.
International Society of Cardiovascular Pharmacotherapy. See http://www.iscpcardio.org/
Institute for Studies on Diabetes Foundation
International Society of Hypertension. See http://ish-world.com/index.htm
Novel procedure in which islet cells from a nondiabetic donor pancreas are transplanted into a person with diabetes, to restore insulin production by beta cells in the islets
Detected by blood analysis, these are proteins that are found in people who may be developing (or recently diagnosed with) type 1 diabetes. Islet-cell autoantibodies indicate autoimmune damage to beta cells in the pancreas
Tiny clusters of pancreatic cells that produce the hormones necessary to support the release of energy in the body. Islet cells include alpha cells (which make glucagon) and beta cells (which make insulin)
Characterised by normal DBP and elevated SBP. It usually occurs in the elderly because of non-compliance of the vessels.
The process by which a B cell switches from making antibody of one isotype to another without altering the specificity of the antibody.
Area that connects the two lobes of the thyroid gland
Chromosome analysis that screens for the presence of genetic defects. Used in pre-implantation genetic diagnosis (PGD).
Potentially fatal emergency condition in the diabetic patient, in which an extremely high blood glucose level and a severe lack of insulin cause adipose cells to break down, to provide energy. Ketones accumulate in urine and blood; the patient presents with nausea/vomiting, upper gastrointestinal pain, ‘pear drops’ breath (fruity, sweet breath), and shallow, rapid, laboured breathing (Kussmaul breathing)
A chemical produced when physiological insulin production is inadequate and the body breaks down adipose cells in order to fulfil energy requirements. High levels of ketones may result in diabetic ketoacidosis or coma
Presence of ketones in the urine; potential sign of diabetic ketoacidosis
Condition indicated by high levels of ketones together with gastrointestinal pain, nausea and vomiting. Potential sign of diabetic ketoacidosis
A T cell with a particular immune specificity and an endogenously produced receptor for antigen, capable of selectively killing its target cell, after attachment to it by this receptor. Also called cytotoxic T cell.
Specialized macrophages located in the liver that form part of the reticuloendothelial system. Their development begins in the bone marrow with the genesis of promonocytes and monoblasts into monocytes and then on to peripheral blood monocytes completing their differentiation into Kupffer cells.
Shallow, rapid and laboured breathing associated with diabetic ketoacidosis
Kuvan® is sapropterin dihydrochloride, a pharmaceutical formulation of tetrahydrobiopterin(soluble tablets) that is approved for use in the management of PKU in many countries.
L-thyroxine (L-T4), also known as levothyroxine sodium or levothyroxine, is a synthetic hormone, chemically identical to thyroxine (T4). L-thyroxine is administered as replacement or supplemental therapy to people with thyroid disorders such as hypothyroidism, or requiring TSH suppression (e.g. thyroid cancer, nodular disease, goitre)
Also known as liothyronine. Synthetic pharmaceutical preparation of the levorotatory isomer of triiodothyronine.
A surgical procedure where a video-endoscope is inserted through a small incision near the navel in order to visualize the pelvic cavity, the ovaries, fallopian tubes and uterus.
This term described several amino acids according to their chemical structure (large, non-ionized side chains), and usually describes: phenylalanine, tyrosine, tryptophan, valine, isoleucine, leucine, methionine, and histidine. Supplements of LNAA are sometimes prescribed for people with PKU.
Synonyms: LNAA
The brain is separated from the rest of the body by a barrier (the ‘blood-brain barrier’) which has many function, including the precise modulation of chemical environment of the CNS. Large, neutral amino acids (including phenylalanine) are essential to the proper function of the brain, for example in the synthesis of important neurotransmitters, such as dopamine, norepinephrine (noradrenaline) or serotonin (5-hydroxytryptamine). LNAA are taken through the blood-brain barrier into the brain on this specific carrier protein, so that they are available for use by nerve cells.
Pregnancies are usually dated from the first day of the last monthly period.
Part of Type I hypersensitivity which requires protein synthesis and occurs several hours after the immediate histamine release.
In the context of PKU, people who were not put on a phenylalanine-restricted diet in the early days or weeks of life. Late-treated people with PKU almost always display the developmentaldisorders characteristic of PKU (such as severe mental retardation).
LADA; latent autoimmune diabetes in adults, or late-onset autoimmune diabetes of adulthood, is a form of diabetes that has a slower onset than the typical form of type 1 diabetes. LADA is sometimes described as type 1.5 diabetes
Latin American Thyroid Society.
L-insulin. See Intermediate-acting insulin
Drug with anti-estrogen effects used in some ART procedures.
White blood cells that play a critical role in the immune response.
A spontaneous release of large amounts of luteinizing hormone resulting in the release of a mature oocyte (ovulation). The LH surge may not occur spontaneously in women treated with injectable gonadotropins. For this reason, hCG, which can mimic the effect of the LH surge, is given to stimulate the final steps in maturation.
Battery of blood tests that assess cardiovascular disease risk by measuring total cholesterol, triglycerides and HDL cholesterol levels, thereby allowing the LDL cholesterol level to be calculated
Loss of subcutaneous adipose tissue characterized by small indentations; may be caused by failure to rotate insulin injection sites adequately
Medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue
Subcutaneous accumulation of abnormalities in adipose tissue characterized by lumps, nodes and tough skin; may be caused by failure to rotate insulin injection sites adequately and may reduce insulin absorption
LDL cholesterol. A blood lipid that transports cholesterol, to facilitate cell repair. However, LDL is also deposited in arteries, forming plaques on arterial walls. Referred to as ‘bad’ cholesterol
The days of a menstrual cycle following ovulation and ending with menstruation. During this 12 to 16 day period, the hormone progesterone is produced.
A hormone produced and released by the pituitary gland that controls the length and sequence of the female menstrual cycle, including ovulation, preparation of the uterus for implantation of a fertilized oocyte, and ovarian production of both estrogen and progesterone. In men, LH is responsible for stimulating the production of testosterone Recombinant LH is available for ovarian stimulation cycles.
Organs of lymphoid tissue distributed throughout the body, connected by lymphatic vessels to the circulatory system. Antigen is taken to the lymph nodes and lymphocytes are activated there to effector cells.
Small cell with virtually no cytoplasm, found in blood, in all tissue and in lymphoid organs, such as lymph nodes, spleen and Peyer's patches, and bears antigen-specific receptors.
Precursor to both T and B lymphocytes.
Soluble substances secreted by lymphocytes, which have a variety of effects on lymphocytes and other cell types.
A large phagocytic cell of the mononuclear series found within tissues that arrive from the circulation through diapedesia. When they are in the blood are known as monocytes. Properties include phagocytosis and antigen presentation to T cells.
A molecule encoded by genes of the MHC which participates in antigen presentation to helper T (CD4+) cells.
The ability of T lymphocytes to respond only when they see the appropriate antigen in association with "self" MHC class I or class II proteins on the antigen presenting cells.
A molecule encoded by genes of the MHC which participates in antigen presentation to cytotoxic T (CD8+) cells.
Serious condition in which BP rises suddenly and unexpectedly, becoming very high. Associated with seizures, headache and visual disturbance.
Tissue located cell, probably derived from basophil granucytes. Possesses receptor for Fc of IgE. Participates in 'Immediate hypersensitivity' reactions. It releases histamine.
The developing fetus is exposed to high blood phenylalanine if the mother has PKU. Women with PKU should take steps to control their blood phenylalanine if they are, or plan to become, pregnant. The consequences for the fetus of uncontrolled maternal PKU (blood phenylalanine higher than 1200 μmol/L) include a very high risk (more than 90%) of mental retardation andmicrocephaly. Physical defects (typically facial dysmorphology) and congenital heart disease also occur.
Also known as MODY; refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene disrupting insulin production
Elective termination of a pregnancy.
Patients with PKU are usually unable to eat natural sources of protein, due to its phenylalaninecontent. Medical foods (sometimes called protein substitutes) provide a source of protein withoutphenylalanine, but with other amino acids necessary for good nutrition.
A class of oral treatment for type 2 diabetes that lowers blood glucose by improving postprandial insulin secretion in the pancreas
Melanin is a hormone that causes darkening of the skin, e.g. in response to sunlight. The highphenylalanine levels in people with poorly controlled PKU inhibit the production on melanin within the body. As a result, patients with PKU often have fair skin.
In the immune system, memory denotes an active state of immunity to a specific antigen, so that a second encounter with that antigen leads to a larger and more rapid response.
Lymphocyte which can respond more quickly and efficiently to an antigen than a naive lymphocyte. Memory B and memory T-cells circulate in the body for years, ready to initiate a new and rapid response if they encounter the same antigen.
Middle East and North Africa
Heavy or prolonged menstrual flow.
A substance extracted from human urine that contains FSH and LH.
Shedding of the uterine lining in response to estrogen and progesterone when conception has not occurred.
A lack of normal development of intellectual capacities. Iodine deficiency may lead to severe mental retardation early in life.
Intraglomerular mesangial cells that are specialized pericytes located among the glomerular capillaries within a renal corpuscle of a kidney. There are three primary functions of intraglomerular mesangial cells: filtration, structural support, and phagocytosis. Mesangial cells phagocytize glomerular basal lamina components and immunoglobulins. They are an unusual example of phagocytic cells derived from smooth muscle and not monocytes.
A clustering of at least three of the following medical conditions: abdominal (central) obesity, elevated blood pressure, elevated fasting plasma glucose, high serum triglycerides and low high-density lipoprotein (HDL) levels
Chemical processes necessary for maintaining life, such as the cellular processes that change food into proteins, fats and sugars to provide functions such as growth, repair and energy
A chemical substance produced within the body, typically due to the actions of an enzyme. These are then typically used in further biochemical reactions, broken down further, or excreted via the urine. For example, pterins in urine (measured in the diagnosis of tetrahydrobiopterin deficiency) are metabolites of tetrahydrobiopterin.
Oral treatment for type 2 diabetes in the class known as biguanides; lowers blood glucose by reducing glucose production in the liver and improving the physiological response to insulin produced in beta cells in the pancreas
Metabolic syndrome
Small quantities of protein (albumin) in the urine, detected by laboratory analysis. May be present on diagnosis in people with type 2 diabetes (either due to damage caused by undiagnosed diabetes or due to the effects of concomitant cardiovascular disease, e.g. hypertension)
An abnormally small head due to a failure of growth of the brain. Microcephaly is evident in some children with congenital hypothyroidism
Microglia are a type of glial cell that acts as the first and main form of active immune defense in the central nervous system (CNS). Due to the unavailability of antibodies from the rest of the body (antibodies are too large to cross the blood-brain barrier), microglia must be able to recognize foreign bodies, swallow them, and act as antigen-presenting cells activating T-cells. Since this process must be done quickly to prevent potentially fatal damage, microglia are extremely sensitive to even small pathological changes in the CNS.
Microscopic procedures, such as ICSI or assisted hatching, involving the oocytes, sperm, or embryos.
Spermatozoa are obtained from the epididymis by either aspiration or surgical excision.
Or small vessel disease. It is an angiopathy affecting small blood vessels in the body, including those in the renal, neurological and vascular systems that cause pathologic changes associated with bleeding, slow blood flow or protein leakage
Oral treatment for type 2 diabetes in the class known as alpha-glucosidase inhibitors; its action blocks enzymes that digest starches, leading to a slower, lower rise in the blood glucose level (particularly the postprandial rise)
Mild hyperphenylalaninemia refers to small elevations in the blood phenylalanine level that are considered insufficiently severe for a diagnosis of PKU and application of the phenylalanine-restricted diet.
A low or intermediate increase in blood phenylalanine, such as that observed in people withmutations of the gene for phenylalanine hydroxylase that only partially impair its activity.
Spontaneous loss of an embryo or fetus from the womb.
A missense mutation is one where a mutation of a single base in a gene causes one amino acidto be replaced by another in the resulting protein. For example, the R408W missense mutation changes the DNA so that a CGG codon (arginine) changes to TGG (tryptophan). This one amino acid substitution effectively abolishes phenylalanine hydroxylase activity in the resulting protein.
Discomfort on one side of the lower abdomen during ovulation.
Two types of insulin, administered in a single injection; mixed-dose formulations typically include a rapid- or short-acting insulin and a longer (intermediate)-acting insulin. The aim of mixed-dose insulin formulations is to provide short- and long-term blood glucose control
Methimazole drug treatment for hyperthyroidism that reduces the amount of thyroid hormone produced by inhibiting TPO. Less hepatotoxic than PTU, but not suitable for use in the first trimester of pregnancy
A molecular chaperone guards and preserves the structure and function of another molecule, usually a protein. For example, tetrahydrobiopterin is a cofactor for phenylalanine hydroxylase. A subset of patients (usually, but not exclusively, with mild PKU) respond to treatment withtetrahydrobiopterin with an increase in the activity of phenylalanine hydroxylase and a reduction in blood phenylalanine levels. It is believed that the mutation of phenylalanine hydroxylase alters its activity by changing its 3-dimensional structure. Tetrahydrobiopterin is believed to help maintain the structure of the mutated phenylalanine hydroxylase protein in a way that preserves its enzyme activity. It may also prevent the phenylalanine hydroxylase protein from being broken down or inactivated by other enzymes. In this way, it is acting as a ‘molecular chaperone’.
Molecular similarities between foreign and self antigen which may lead to autoimmunity.
Literally, coming from a single clone. A clone is the progeny of a single cell. In immunology, monoclonal generally describes a preparation of antibody that is monogenous, or cells of a single specificity.
Produced by a single clone of B lymphocytes.
Large circulating white cell, 2-10% of total white cells, phagocytic, indented nucleus. Migrates to tissues, where are called macrophage.
The ability to perform controlled and precise movements of muscle groups. Measurement of motor skills is one of the neuropsychological tests sometimes prescribed for people with PKU to track their development.
Medullary thyroid cancer accounts for ~5% of all thyroid cancers and is the third most common type of thyroid cancer. MTC originates from the parafollicular cells (C cells), which release the hormone calcitonin. MTC can be sporadic, or inherited. Sporadic MTC is the most common form; inherited MTC is caused by a mutation in the RET proto-oncogene. The 5-year survival rate for MTC is reported at > 80% but < 90%.
Vast numbers of proteins are required to support life. The structures of these proteins are determined by genes, made up of strands of DNA. Mutations are changes in the DNA sequence that may alter the way that proteins work. Papillary thyroid cancers are often associated with mutations in the BRAF gene (the gene for the B-type Raf kinase, BRAF). Medullary thyroid cancer is linked with a mutation in the RET proto-oncogene
A sheath, made of specialized cells (oligodendrocytes in the CNS, Schwann cells in the periphery), that covers and insulates nerves and increases the speed of transmission of nerve impulses. Sub-optimal control of blood phenylalanine over the long term has been shown to cause damage to myelin in the brain. It is unclear, however, how this phenomenon relates to the loss of executive function and cognitive function that has been observed in populations with PKU.
Damage to the myelin sheath in the spinal cord; a fairly rare complication in people with diabetes mellitus
Or acute myocardial infarction (AMI). Commonly known as a heart attack, occurs when blood flow stops to a part of the heart, causing damage to the heart muscle.
A common benign tumour in the muscular wall of the uterus, also called a fibroid.
Surgical removal of fibroid tumours from the wall of the uterus.
Swelling of the skin and underlying tissues giving a waxy consistency, typical of patients with underactive thyroid glands. Synonymous with hypothyroidism, especially severe disease
Oral treatment for type 2 diabetes in the class known as D-phenylalanine derivatives; aims to lower blood glucose by improving postprandial insulin production in the pancreas
Naturally occurring, large, granular, lymphocyte-like cells that kill various tumour cells. They may play a role in resistance to tumours.
Natural protein is the protein found in everyday foodstuffs, as opposed to the manufactured protein in medical foods.
Also known as desiccated thyroid. Produced using pig thyroid glands. Natural thyroid drugs therefore contain all thyroid hormones
Abbreviated as NLD. This is a necrotizing skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis. NLD most frequently appears on the patient's shins, often on both legs, although it may also occur on forearms, hands and trunk. The centre of the affected area usually has a yellowish tint while the area surrounding it is a dark pink
Growth of small blood vessels, which are often abnormally formed. In people with diabetes, neovascularization may occur in the retina, where it causes visual disturbance or blindness
This kidney disease may develop in people with inadequately controlled diabetes or concomitant cardiometabolic diseases. Over time, hyperglycaemia and hypertension may damage the glomeruli, causing proteinuria and inhibiting the ability of the kidneys to filter and excrete waste or excess fluid
Long-term hyperphenylalaninemia impairs the function of the brain. Regular neuropsychological testing is necessary to track the development of the brains of young people with PKU, and measures a range of functions of the brain, such as cognitive function, memory, and motor skills.
Causing damage to nervous tissues. The long-term elevation of phenylalanine characteristic of uncontrolled or late-treated PKU is neurotoxic to the brain, and causes mental retardation, among other adverse effects.
The most abundant type of white blood cells in humans. They form an essential part of the immune system.
The process of testing all babies for certain diseases, such as PKU, so that treatment can be applied in time to protect the child from long-term harm from the disease. Also called neonatal screening.
Mediator of several mechanisms in different tissue, it is used by neutrophils and macrophages to kill pathogens.
Thyroid nodules are common, and may be asymptomatic and associated with a euthyroid state. However, nodules should always be investigated: they carry a < 5% risk of malignancy. Nodules arise within an otherwise normally-functioning thyroid gland and manifest as a lump in the throat; in individuals with low BMI, lumps in the neck may be observed on standard examination. Some nodules are thyroid cysts, which are fluid-filled or contain solid and fluid components; occasionally the solid components may be malignant. Nodular disease is characterised using ultrasound; histopathology (using fine-needle aspiration biopsy) may also be undertaken. Measurement of TSH, thyroid function tests (TFT) or anti-thyroid antibodies may be performed, to identify functional thyroid disorders
May be multinodular (where the thyroid feels lumpy) or may involve a single nodule (which could be a fluid-filled cyst, a solid or semi-solid tumour). Many people with a goitre may be euthyroid
People with non-PKU hyperphenylalaninemia usually have only mildly impaired phenylalanine hydroxylase. This often arises from a mutation of only one of their two copies of the gene forphenylalanine hydroxylase, or from mutations that only slightly impair the action of the enzyme. They display a mildly elevated level of blood phenylalanine that is not high enough to trigger a diagnosis of PKU and which does not usually require medical intervention.
A nonsense mutation involves changing a codon for an amino acid to a stop codon. This results in a shortened protein that usually has no biological activity. The R111X mutation changes a DNA codon from CGA (arginine) to TGA (stop).
See Intermediate-acting insulin; NPH stands for neutral protamine Hagedorn
Oral antidiabetes drugs
Oral glucose tolerance testing
Infrequent menstrual periods with intervals between periods of greater than 35 days.
Abnormally low number of sperm in a semen sample.
The egg cell produced in the ovaries. Also called the ovum or female gamete.
A substance, usually antibody or complement component, which coats a particle, such as a bacterium, and enhances phagocytosis by phagocytic cells.
Literally means "preparation for eating". The coating of a bacterium with antibody and/or complement that leads to enhanced phagocytosis of the bacterium by phagocytic cells.
Abbreviated as OGTT. A medical test in which glucose is given and then blood samples taken to determine how quickly it is cleared from the blood. It is usually used to test for diabetes, insulin resistance, impaired beta cell function, and sometimes reactive hypoglycaemia and acromegaly, or rarer disorders of carbohydrate metabolism. Many variations of the OGTT have been devised over the years for varying purposes, with different standard doses of glucose, routes of administration, and intervals and durations of sampling, and various substances measured in addition to blood glucose
Treatments administered by mouth to improve blood glucose levels in people with type 2 diabetes. There are numerous classes of oral hypoglycaemic agent, including alpha-glucosidase inhibitors, biguanides, D-phenylalanine derivatives, meglitinides, sulphonylureas and thiazolidinediones
Type of bone cell that removes bone tissue by removing its mineralized matrix. Osteoclasts are formed by the fusion of cells of the monocyte-macrophage cell line.
A fluid filled sac growing in the ovaries that may lead to ovulatory disorders.
A condition involving ovarian enlargement and an acute fluid shift out of the intravascular space, most commonly seen as a complication of ovarian induction therapy.
The number and quality of oocytes in the ovaries of a woman of childbearing age.
Stimulation of follicle development and maturation via exogenous gonadotropins.
Release of a mature oocyte from the surface of the ovary.
The use of hormone therapy (injectable gonadotropins) to stimulate oocyte maturation and release.
Organ of the endocrine and digestive systems that produces and secretes enzymes to digest food and also produces the hormone insulin, to control blood sugar levels
Novel surgical procedure in which donor pancreatic tissue is transplanted into a person with diabetes, to re-instate normal pancreatic function (i.e. insulin production)
A screen to evaluate cervical cells to determine if they are normal. Cells are collected from the cervix with a cotton swab, wooden spatula or small brush and then examined microscopically.
A type of well-differentiated thyroid cancer that appears as an irregular solid or cystic mass or nodule in a normal thyroid parenchyma. The most common type of thyroid cancer, globally. See thyroid cancer
Usually four small glands behind the thyroid that secrete parathyroid hormone. Involved in calcium and bone metabolism
Administration of exogenous targeted antibody aimed to empower the immune response against specific antigens (e.g. viruses, toxins).
Disease-causing organism.
Phenylalanine ammonia lyase (PAL) is an enzyme derived from a plant that breaks downphenylalanine, but does not require tetrahydrobiopterin as a cofactor. PEG-PAL is a pegylated injectable formulation of PAL that is being studied in clinical trials in people with PKU. PEG-PAL is not yet available for prescription.
An infection of organs in the pelvic cavity which can lead to severe complications including tubal blockage and adhesions.
A minimally invasive surgical technique used for sperm retrieval in men with obstructive azoospermia in which sperm is aspirated from the epididymis through a fine needle.
A cytolytic protein found in the granules of CD8 T-cells and NK cells.
Organs where lymphocytes are exposed to antigen: lymph nodes and spleen.
Damage to the body's peripheral nervous system. This can cause muscle weakness, numbness and tingling, burning pain and a loss of coordination
Abbreviated as PVD. Disease of the large blood vessels in the limbs, occurring as a result of impairment of blood flow. PVD symptoms are typically aching of the affected limbs or ulcerated tissue that fails to heal (or heals very slowly)
Also known as PPAR-γ, PPARG, glitazone receptor and NR1C3. Type II nuclear receptor, encoded by the PPARG gene, that is part of a key superfamily of transcription regulators involved in gene expression and the development of diseases such as diabetes
Rare tumour of adrenal gland tissue. Symptoms include headache, sweating, palpitations, elevated blood pressure, anxiety, nausea, tremors.
Cell which engulfs particles. Macrophages and neutrophils are the principal phagocytes of the immune system.
The engulfment of a particle or a microorganism by leukocytes.
Phenylalanine. An essential amino acid usually derived from dietary protein. Patients with PKU lack the ability to convert phenylalanine to tyrosine due to a mutation of the enzyme phenylalanine hydroxylase. The resulting accumulation of phenylalanine in the bloodstream is toxic to the CNS unless levels of phenylalanine are controlled using a phenylalanine-restricted diet or other treatment (seesapropterin).
Much of the body’s tyrosine is usually produced from phenylalanine by the enzyme,phenylalanine hydroxylase. When phenylalanine hydroxylase activity is lacking, as in PKU, the levels of both of these amino acids may be disturbed (high phenylalanine, low tyrosine). This has important implications, particularly for the activity of the brain, which requires access to bothphenylalanine and tyrosine. For some people with PKU, establishing a normal ratio betweenphenylalanine and tyrosine may be an important aspect of treatment with a phenylalanine-restricted diet, medical foods and, in some cases, tyrosine supplementation.
This describes the appearance of an individual in medical terms. For example, someone who responds to treatment with sapropterin with a substantial fall in blood phenylalanine may be described as displaying “the tetrahydrobiopterin-responsive PKU phenotype”.
The level of phenylalanine measured in the blood. The blood phenylalanine level is used to diagnose PKU and to measure the success of the phenylalanine-restricted diet, or of other treatments for PKU. Recommended blood phenylalanine levels vary with age.
Phenylalanine exchanges are lists of common foods with information on the amount ofphenylalanine that they contain. These exchanges help people with PKU to plan their diets, by letting them know which foods can be eaten freely (within reason), which foods must be consumed in carefully controlled amounts, and which foods should be avoided altogether.
This is an enzyme (EC 1.14.16.1, gene locus 12q24.1) that converts phenylalanine (absorbed from the diet) to another amino acid, tyrosine. People with PKU have a mutation in their genesfor phenylalanine hydroxylase that reduces or completely blocks its activity. Mutations in both copies of the gene for phenylalanine hydroxylase are required to produce clinical PKU.
Synonyms: PAH
The amount of phenylalanine that a patient can take in with food, without excess phenylalanine appearing in the blood.
PKU is characterized by an inability to control levels of phenylalanine in the blood, which builds up to toxic levels when individuals with PKU follow a normal diet. Thus, a special diet is required, which is very low in phenylalanine and which usually involves prescription of medical foods.oods.
An inherited (autosomal recessive) disease caused by a mutation of the gene for the enzyme,phenylalanine hydroxylase, which normally converts phenylalanine to tyrosine. The resulting accumulation of phenylalanine in the bloodstream is toxic to the central nervous system unless levels of phenylalanine are controlled using a special diet or other treatment (see sapropterin, amino acids).
Medial groove in the upper lip that runs from the nose to the top of the lip.
Laser treatment for diabetic retinopathy in which leaking blood vessels and neovascular tissue are sealed off/removed
Oral treatment for type 2 diabetes in the class known as thiazolidinediones; improves glucose uptake in the bloodstream and in cells by improving insulin sensitivity and reducing insulin resistance. Thiazolidinediones bind avidly to peroxisome proliferator-activated receptor-gamma in adipocytes, thereby promoting adipogenesis and fatty acid uptake in peripheral adipose tissue
The gland which releases several hormones that regulate the function of many endocrine cells, tissues and organs. Pituitary gland function is regulated by the hypothalamus through complex feed-back mechanisms.
Small gland, situated in a bony space behind the eyes at the base of the brain. Secretes thyroid stimulating hormone (TSH) as part of the closed-feedback mechanism that results in normal thyroid hormone homoestasis
Embryonic tissue that connects the developing fetus to the uterine wall; provides a mechanism for flow of nutrients and oxygen from the maternal circulatory system to the fetus, and removal of fetal waste. The fetus is connected to the placenta by the umbilical cord.
End-stage form of a B cell differentiation to an antibody-producing cell.
Activation of B cells or T cells with several different antigen specificities.
Antibody molecules with several different antigen-binding specificities.
A condition characterized by multiple cysts in the ovaries frequently accompanied by elevated levels of androgens, infertility, obesity and hirsutism. The cysts are actually follicles. Sometimes referred to as Polycystic Ovary Syndrome.
Excessive thirst; a common sign of type 1 or type 2 diabetes mellitus
White cell, granular cytoplasm (granulocytes). They are defined according to the staining of granules: neutral staining (neutrophil) – phagocytic, most frequent; basophilic staining – basophil granulocytes; eosinophilic staining - eosinophil.
Excessive hunger; a potential sign of type 1 or type 2 diabetes
Excessive urination; may be a sign of type 1 or type 2 diabetes
Abnormally high blood pressure in the portal circulation.
Selection process that allows a cell to survive or persist in a mixed population. Lymphocytes must be positively selected during their development and activation to become effector cells.
An analysis of cervical mucus within a few hours of coitus to inspect interaction between sperm and cervical mucus. Also known as the Sims-Huhner Test.
Inflammation of the thyroid occurring after pregnancy, which may cause short-term hyperthyroidism followed by hypothyroidism
The blood glucose level at 1–2 h after eating
A blood glucose level that is high 1–2 h after eating
Provider-patient communication
Postprandial hyperglycaemia
Toxaemia of late pregnancy characterised by high blood pressure, albuminuria (too much protein in urine) and oedema (fluid retention).
Screening of a single cell from an embryo produced in an IVF cycle for genetic and/or chromosomal abnormalities prior to embryo transfer. It has two main purposes: to identify genetic diseases in the embryo and to detect anomalies that cause ART failure.
A condition in which a person presents with a blood glucose level that is higher than normal but does not meet the criteria for a diabetes diagnosis. Prediabetes confers a heightened risk of type 2 diabetes, but also of other cardiovascular diseases (e.g. cardiac disease, stroke). Also known as impaired glucose tolerance and impaired fasting glucose
Prehypertensive state indicated by a systolic BP ranging between 120 and 139 mmHg or a diastolic BP ranging between 80 and 89 mmHg; prehypertension can be treated by lifestyle measures such as reducing weight and increasing levels of exercise.
The loss of ovarian function before the age of 40 years.
Commercial insulin preparation that includes two types of insulin: 50/50 insulin and 70/30 insulin
The blood glucose level before the person eats
Describes a patient who has never been able to conceive a pregnancy.
The immune response to a first encounter with antigen. The primary response is generally limited, has a long induction phase or lag period, consists primarily of IgM antibodies production, and generates immunologic memory.
A hormone produced and released by the corpus luteum of the ovary during the second half of an ovulatory cycle and by the placenta during pregnancy. Progesterone is necessary to prepare the lining of the uterus for the implantation of the fertilized oocyte. Supplemental support can be provided by injection or in vaginal or oral forms when indicated.
Substance made in the pancreas that ultimately becomes insulin
A hormone produced by the pituitary gland. Measurement of circulating prolactin may provide an index of a functional disorder within the hypothalamic-pituitary axis that may lead to failure of proper ovulation.
Condition characterized by fragile neovasculature along the retina and in the vitreous humor
Ubiquitous molecules that are involved in myriad physiologic and pathologic processes including the contraction and relaxation of smooth muscles, control of blood pressure and modulation of inflammation.
A gland in the male reproductive system that produces a portion of the semen including a chemical that liquefies the coagulated semen 20 - 60 minutes after entering the vagina.
Patients with PKU are usually unable to eat natural sources of protein, which containsphenylalanine. Protein substitutes (medical foods) provide a source of protein withoutphenylalanine, but with other amino acids necessary for adequate nutrition.
The presence of protein in the urine; in people with type 2 diabetes mellitus, this may indicate a reduction in kidney function
A group of substances (metabolites) produced during the breakdown of tetrahydrobiopterin in the body. The profile of different pterins found in the urine of patients with tetrahydrobiopterin deficiency is measured to determine which of the enzymes involved in the production oftetrahydrobiopterin is not working properly. See also tetrahydrobiopterin deficiency.
Propylthiouracil is a second-line treatment for hyperthyroidism. Reduces the amount of thyroid hormone produced, by inhibiting TPO and by inhibiting peripheral T4/T3 conversion. Can be administered in first trimester of pregnancy
Increase of blood pressure in the pulmonary arteries.
Difference between SBP and DPB. May be a predictor of heart disease risk.
Renin-angiotensin-aldosterone system; looped signalling pathway involved in BP regulation; if BP falls, the enzyme renin is released by the kidney and converted to angiotensin; BP is then raised by arteriole constriction, and enhanced aldosterone production in the adrenal gland, which promotes water and sodium retention in the kidney.
Broad description used for any of the isotopes of iodine, especially I131 or I123, which are used as tracers in medicine. Radioiodine (also known as RAI; I-131) is administered orally to some patients with benign or malignant thyroid disorders: malignant thyroid cells absorb the radioactive iodine. This therapy can be effective at offering targeted radiotherapy, even for metastatic disease. RAI is also used to treat hyperthyroidism by reducing the volume of the thyroid. RAI aims to destroy enough thyroid tissue so that the patient becomes euthyroid or hypothyroid. Radioactive iodine is taken up by the iodide transporter in the thyroid; the follicular cell is then destroyed by radioactivity
Insulin formulation that begins to lower blood glucose levels 5–10 min postinjection, with its strongest effect evident between 30 min to 3 h postinjection
Randomized clinical trial.
A swing towards hyperglycaemia immediately after being hypoglycaemic or euglycaemic
Produced by genetic engineering, rFSH has a similar structure and biologic activity to pituitary or urinary FSH. Also called follitropins and sometimes referred to as r-hFSH.
Produced by genetic engineering, rLH has a similar structure and biologic activity to natural LH. Sometimes referred to as r-hLH.
Repeated pregnancies (traditionally at least three) ending in miscarriage
Insulin formulation with a short action that starts to lower blood glucose, often in ≤30 min postinjection with a peak effect within 2–4 h; effect diminishes within 6 h postinjection
Catheter-based endovascular procedure in which radiofrequency or ultrasound ablation is used to treat resistant hypertension.
Oral treatment for type 2 diabetes in the class known as meglitinides; lowers blood glucose by improving postprandial insulin production in the pancreas
BP >140/90 mmHg despite attention to lifestyle measures and treatment with three antihypertensive drugs in adequate doses (including a diuretic).
An ovary that fails to respond to FSH stimulation.
Sperm is diverted to the bladder during orgasm, rather than being released through the tip of the penis.
Oral treatment for type 2 diabetes in the class known as thiazolidinediones; improves glucose uptake in the bloodstream and in cells by improving insulin sensitivity and reducing insulin resistance. Thiazolidinediones bind avidly to peroxisome proliferator-activated receptor-gamma in adipocytes, thereby promoting adipogenesis and fatty acid uptake in peripheral adipose tissue
Level of protective antibodies against rubella (German measles). If immunity is not present, the patient should be advised to have a rubella vaccination before attempting pregnancy.
Injection of sterile saline into the uterine cavity during an ultrasound examination to assess for any irregularities of the cavity (polyps, fibroids, scarring, etc.).
A surgical procedure to remove one or both fallopian tubes.
Stanford Asia Pacific program for hypertension and insulin resistance
A chemical name for a form of tetrahydrobiopterin (BH4): a naturally occurring substance that is essential for the activity of phenylalanine hydroxylase (the enzyme that is deficient in PKU). In a subset of patients with PKU (the tetrahydrobiopterin-responsive phenotype – usually, but not exclusively, patients with milder forms of PKU), treatment with sapropterin increases the activity of phenylalanine hydroxylase and improves control of blood phenylalanine.
Systolic blood pressure. Highest force of blood against arterial walls during the contraction phase of cardiac muscle.
Screening tests are used for the detection of diseases in populations. All newborn babies in most countries are screened for PKU and other inherited metabolic diseases in the first days or weeks of life. Appropriate therapeutic intervention can then be applied where necessary to prevent long-term adverse consequences of the disease.
Hypertension that occurs secondary to disease/dysfunction in other organs (e.g. kidney), blood vessels (e.g. aorta) or glands (e.g. adrenal gland).
The inability to conceive or carry a pregnancy after having successfully conceived and carried one or more pregnancies.
Organs in which antigen-driven proliferation and differentiation of B and T lymphocytes takes place. Lymphocytes become effector cells and memory cells. Includes the lymph nodes, spleen, mucosal lymphoid tissue, and bone marrow.
Repeat immune response to an antigen; memory response.
A surface receptor on epithelial cells lining mucosal surfaces which binds dimeric IgA and transports it through the cell into mucosal secretions.
Antigen normally present in one's own body, especially that with which the immune system has contact.
The fluid portion of the ejaculate consisting of secretions from the seminal vesicles, prostate gland, and several other glands in the male reproductive tract. May also refer to the entire ejaculate, including the sperm.
Test to assess sperm quality based upon the following characteristics: ejaculate volume, appearance, consistency, sperm morphology, sperm motility, sperm concentration and antibody presence.
Initial contact with an allergen that results in IgE production and binding to mast cells, so that subsequent contact leads to rapid allergic symptoms.
A uterus divided into 2 parts by a wall of tissue (septum); it is associated with increased risk of early pregnancy loss.
Not all DNA mutations alter the activity of the resulting protein. For example, a codon changing from CAA to CAG would produce glutamine in the final protein in either case, and the protein would be identical for either genotype. This silent mutation has been described for phenylalanine hydroxylase.
Imaging of internal systems through high frequency sound waves. Used in ART to detect and count follicle growth (and disappearance) in many fertility treatments. Also used to detect and monitor pregnancy.
Patients with PKU must carefully control their intake of phenylalanine and require a special,phenylalanine-restricted diet to do so.
The male reproductive cell (gamete).
Sperm clumping caused by antibody reactions or by infection.
The concentration of sperm in ejaculate, measured as number of sperm per millimeter.
The shape of ejaculated sperm. A semen analysis factor that indicates the number or percentage of sperm in the sample that appear to have been formed normally. Abnormal morphology includes sperm with kinked, doubled, or coiled tails.
The ability of the sperm to swim. Poor motility is an indication of reduced fertilization potential as the sperm will have difficulty swimming towards the oocyte.
A technique to separate sperm from seminal fluid (semen).
The process of sperm production in the testes.
Traditional machine consisting of an arm cuff, simple air pump, valve and calibrated scale that measures BP when used in association with a stethoscope.
Steroid treatment used in forms of hypertension to promote sodium excretion and treat fluid retention.
Interruption of a sequence of DNA base pairs to insert new DNA or to delete existing DNA. The IVS10 splicing mutation is common among some populations with PKU, and severely diminishes the activity of phenylalanine hydroxylase.
A method of collecting a semen specimen so that the first portion of the ejaculate is caught in one container and the rest in a second container. In most men, the first specimen will contain the vast majority of the sperm.
A loss of pregnancy during the first trimester.
They are characterized by the ability to renew themselves through mitotic cell division and differentiating into a diverse range of specialized cell types.
Metallic mesh tube inserted during cardiac catheterisation to widen or open blood vessels that are occluded due to atherosclerosis.
The total inability to reproduce. Not to be confused with infertility. A clinically irreversible condition that permanently prevents conception.
Death of a fetus after 20 weeks’ gestation.
Administration of hormones which induce development of multiple ovarian follicles.
The sequence of three nucleotides (bases) in DNA/RNA that provides an instruction to stop transcribing DNA into RNA or producing a protein.
Exercise-based test, often conducted on a treadmill, where the patient’s heart rate is increased to a specific, predetermined level at which point electrocardiogram readings are made, to establish whether the patient has cardiac ischaemia or arrhythmia.
Cerebral event associated with disruptions to blood flow within the brain: blood-vessel leakage may lead to bleeding or blood vessel blockages may be caused by blood clots.
Rare inflammatory condition in the thyroid gland, usually associated with a recent history of viral upper respiratory tract infection and more common in middle-aged female patients. Associated with pain. Under investigation, anti-thyroid antibodies are undetectable or present at low levels; biopsy of the thyroid gland shows giant-cell inflammation. The condition is usually self-limited. In mild cases, treatment aims to reduce pain and inflammation (using simple anti-inflammatory agents). If hyperthyroidism is identified, this should be treated with beta-blockers. More severe cases can be treated with steroids, to control inflammation
Abbreviated as SCH. Also known as subclinical hypothyroid disorder. SCH describes a state where a patient exhibits increased serum TSH levels, but circulating T4 and T3 concentrations are within the population reference range
Also spelt as sulfonylurea. Class of oral diabetic drugs used to treat type 2 diabetes mellitus, predominantly by increasing the secretion of insulin from the pancreas. There are two generations of sulphonylurea: the first generation compounds usually require more frequent administration than the second-generation sulphonylureas; the second-generation agents may be more appropriate for patients with impaired renal function
Antigen which binds TCR and class II MHC outside the normal binding site and activates many different clones of T cells.
When a couple asks a woman to carry a child for them. The child may be biologically related to the couple, to the male partner and the surrogate, or be conceived using a donor oocyte, sperm or embryo.
Highest force of blood against arterial walls during the contraction phase of cardiac muscle.
Lymphocyte which has developed in the thymus and has membrane TCR that binds antigen plus self MHC. T cells are either helper (CD4) or cytotoxic (CD8) phenotypes.
Membrane molecule that binds antigen peptide plus MHC.
Biochemical process of stimulating a resting T cell to become an effector cell.
Selection of T cells which can bind self major hystocompatibility complex (MHC) with appropriate affinity to be MHC-restricted.
An immunogen that is able to induce antibody synthesis only in the presence of lymphokines released by helper T cells.
An immunogen which induces antibody synthesis in the absence of lymphokines released by T cells; the antibodies are generally only of the IgM isotype.
Type 2 diabetes mellitus
An advanced technique for mass newborn screening that tests blood from newborn babies for PKU along with a number of other inherited diseases. This is the most advanced screening methodology currently available and has already replaced older methods (Guthrie test, fluorometric screening) in many countries.
thyroid dysfunction
See DTH
Diabetes is often managed using a multidisciplinary approach whereby specialist care is available to advise and support the person with diabetes, as required, in addition to monitoring their overall health and wellbeing. The team management approach typically involves specialist members of the medical and nursing profession (including those involved in cardiovascular and metabolic health), dietetic services, diabetes educators, podiatrists and ophthalmologists, as required
A small surgical excision of testicular tissue to determine the ability of the cells to produce normal sperm or ascertain the cause of testicular malfunction.
A surgical technique for retrieving sperm from men with azospermia. Testicular tissue is aspirated through a fine needle under local anesthesia and placed in culture media. Sperm are then dissected out from within the seminiferous tubules and released from the surrounding testicular tissue.
The male hormone responsible for the formation of secondary sex characteristics and for supporting the sex drive. Produced in the testes, it is also necessary for spermatogenesis. Produced by women in much lower amounts.
A naturally occurring substance (a cofactor) that is essential for the activity of phenylalanine hydroxylase (the enzyme that is deficient in PKU). A pharmacological formulation oftetrahydrobiopterin is available in Japan.
A condition in which gene mutations impair the production of tetrahydrobiopterin, the cofactor for phenylalanine hydroxylase. The activity of any one of several enzymes may be deficient (GTP cyclohydrolase I; 6-pyruvoyl-tetrahydropterin synthase; sepiapterin reductase; pterin-4-alpha-carbinolamine dehydratase 1; dihydropteridine reductase). Some, but not all, forms of tetrahydrobiopterin deficiency feature hyperphenylalaninemia, requiring treatment with aphenylalanine-restricted diet. About 1–2% of cases of hyperphenylalaninemia detected on routine newborn screening are due to tetrahydrobiopterin deficiency.<br/>Tetrahydrobiopterin is also required for the production of key neurotransmitters in the CNS, and some forms of tetrahydrobiopterin deficiency present with symptoms arising from alteredneurotransmitter activity.
A medical investigation to identify people who respond to treatment with sapropterin. A successful response is determined according to the size of the reduction in blood phenylalanineafter treatment (usually, but not always, a 30% reduction in the level of blood phenylalaninecompared with the level immediately before treatment). Several different loading tests are currently in use at different centres.
This term is used to describe people with PKU who have responded positively to treatment withsapropterin in a tetrahydrobiopterin loading test. Such people are potentially medically suitable for long-term treatment with sapropterin to help control their blood phenylalanine.
Helper T cell that activates macrophages and cytotoxic T cells.
Helper T cell that activates B cells.
Elective termination of a pregnancy.
Class of oral treatments for type 2 diabetes that improve glucose uptake in the bloodstream and in cells by improving insulin sensitivity and reducing insulin resistance. Thiazolidinediones bind avidly to peroxisome proliferator-activated receptor-gamma in adipocytes, thereby promoting adipogenesis and fatty acid uptake in peripheral adipose tissue
A pregnancy at risk of spontaneously aborting. Symptoms are cramping, spotting or bleeding during pregnancy.
Primary lymphoid organ in which T lymphocytes mature.
Thyroglobulin (Tg); a 660 kDa dimeric protein that is only produced by cells in the thyroid gland. In patients with thyroid cancer, absence of Tg is a marker that the tumour has been eradicated
Serum glycoprotein, synthesized in the liver. Binds tightly to thyroxine but less firmly to triiodothyronine, thereby preventing their removal from the blood and releasing them as needed elsewhere in the body
Thyroid cancer is rare, but the incidence of differentiated thyroid cancer (DTC) is increasing globally, to the extent that it is the most frequently observed endocrine cancer. However, the five-year survival rate for DTC is high, at 97.7%. Histologically, thyroid cancer is defined as papillary thyroid cancer, thyroid follicular cell cancer, medullary thyroid cancer and other subtypes (such as lymphoma, sarcoma). DTC is a cancer of the follicular epithelial cells in the thyroid. Papillary cancer comprises about 85% of cases, ~10% have follicular histology, and the remainder are oxyphil or Hürthle cell tumours. DTC is treated with surgical excision (thyroidectomy); disease recurrence or persistence is most likely to occur in metastatic lymph nodes. Accurate postoperative disease staging is critical, to aid decisions relating to prognosis and further management. Radioactive iodine is administered in some cases, either for thyroid tissue remnant ablation, or to treat any residual disease or metastases. MTC accounts for ~5% of all thyroid cancers and is the third most common type of thyroid cancer. MTC originates in the parafollicular cells (C cells), which release calcitonin. MTC can be sporadic, or inherited. Sporadic MTC is the most common form; inherited MTC is caused by a mutation in the RET porto-oncogene.
The thyroid gland is an endocrine gland in the neck. It synthesizes the thyroid hormones tetraiodothyronine (T4) and triiodothyronine (T3), and plays an important role in cell and organ function; the thyroid works with the hypothalamus and pituitary gland in a closed feedback loop, to regulate the production of hormones responsible for metabolism, growth and maturation
Also known as TPO. Enzyme within the thyroid that catalyzes the incorporation of iodide to tyrosine residues in the production of thyroxine. This process is called organification.
Also known as thyrotropin, TSH is a glycoprotein hormone, secreted by thyrotrope cells in the pituitary gland. TSH regulates the production of thyroxine (T4), and subsequently T3. TSH is the most sensitive marker of thyroid status. Small changes in free T4 can result in large changes in TSH. Measuring TSH is important when thyroid dysfunction is suspected
Also known as tetraiodothyronine, T4. Iodine-containing hormone secreted by the thyroid gland. Prohormone of T3. Primary function of T4 is to increase the rate of cell metabolism
Oral treatment for type 2 diabetes in the class known as sulphonlyureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
Oral treatment for type 2 diabetes in the class known as sulphonylureas; reduces the blood glucose level by augmenting insulin production and improving how the body uses the insulin that it produces
Diminished or absent capacity to make a specific response to an antigen, usually produced as a result of contact with that antigen under nonimmunizing conditions.
Twisting of the testis inside the scrotum. Causes extreme pain and swelling; twists off the blood supply and causes severe damage to the testicle. Torsion of the ovary may also be a complication of ovarian hyperstimulation syndrome.
Condition associated with hyperthyroidism. Also known as toxic nodular goitre, or toxic nodular struma. This is a multinodular swelling in the region of the body where the thyroid gland is found
Countries that are classified between ‘developing’ and ‘developed’.
Thyrotropin-releasing hormone produced by the hypothalamus, TRH is important for the regulation of TSH and prolactin secretion. TRH is the simplest hypothalamic neurohormone. Tripeptidal, its sequence is glutamic acid-histidine-proline
Main form in which fat is stored in the body; comprises three fatty acid chains and a glycerol molecule. In people with poorly controlled diabetes, high triglyceride levels may be observed
Also known as T3, triiodothyronine is an iodine-containing thyroid hormone, liberated from thyroglobulin, that helps to control metabolism but also inhibits secretion of thyrotropin in the pituitary gland. T3 production is activated by TSH in a closed feedback loop (see hypothalamic-pituitary-thyroid axis). T3 has effects on target tissues that are approximately four times more potent than the effects of T4; approximately 20% of thyroid hormone is produced as T3, with the remainder produced as T4
Thyroid stimulating hormone
Surgery performed to remove a diseased portion of the fallopian tube and reconnect the two ends; sterilization reversal.
The most common genetic disorder causing female infertility in which women have only one X chromosome.
Sometimes abbreviated as T1DM. Occurs as a result of injury or attack to the insulin-producing beta cells in the pancreas, which causes the body to produce little or no insulin. Often occurs as a result of autoimmune attack. Irreversible without pancreatic tissue transplantation. Characterized by hyperglycaemia, glycosuria and symptoms such as rapid weight loss, excessive thirst and polyuria, ketotic breath; typically emerges in infancy, childhood, adolescence or early adulthood but may present in later adulthood. See also Diabetes mellitus. Must be managed with insulin replacement, using injected and/or inhaled insulin formulations and (usually in experimental situations) pancreatic/islet cell transplantation from unaffected donors
Sometimes abbreviated as T2DM. Occurs when the pancreas is unable to make adequate levels of insulin to meet physiological needs, or when insulin is being made but is not properly utilized. Typically develops in mid-to-late adulthood, although lifestyle factors such as increasing rates of obesity and metabolic syndrome have seen increasing rates of type 2 diabetes development in much younger people. In early stages, type 2 diabetes may be managed through dietary control and increasing levels of physical activity, although oral treatments that target different pathophysiological mechanisms associated with type 2 diabetes, and injectable insulin regimens and metformin, are also widely used
The shortened name for tyrosine, an amino acid usually largely provided by the conversion ofphenylalanine by an enzyme, phenylalanine hydroxylase.
A breakdown of skin tissue, often as a result of simple injury, that develops into a deep open lesion that may extend beyond the epidermal layer. In people with diabetes, ulcers may develop for a range of reasons, although the presence of peripheral neuropathy is the major factor.
Long-acting insulin (U insulin). Typically starts to lower blood sugar 4–6 h postinjection, with its peak effect at between 10 and 18 h and some continued effect on blood sugar for approximately 24–28 h
Technique for visualizing the follicles in the ovaries, allowing the estimation of size and number of follicles. May also be used to visualize the fetus in the uterus.
A uterine abnormality: the uterus has only one horn and is smaller in size than normal.
Basic, standard, measure of insulin. U-100 insulin is the most common measure and equates to 100 units of insulin per ml or cc of solution
Long-term study conducted in the UK between 1977 and 1997, which reported a reduction in risk of renal or ocular complications in people with type 2 diabetes who reduced their levels of hyperglycaemia. Improvements in blood pressure in subjects with concomitant hypertension were also associated with a lower risk of stroke. Diabetes complication-associated mortality was also reduced in people who improved their health (i.e. reductions in blood glucose and better hypertension control)
Inability to respond to an antigenic stimulus. Unresponsiveness may be specific for a particular antigen (see tolerance), or broadly non-specific as a result of damage to the entire immune system, for example after whole body irradiation.
Condition that develops due to the build-up of urea in the bloodstream due to kidney dysfunction. Symptoms of uraemia include anorexia, weakness, nausea/vomiting and mental confusion
Waste product found in blood, following the normal hepatic-mediated breakdown of protein. Usually removed by the kidneys and excreted in the urine
The procedure in which a urine sample is tested to look for the presence of abnormalities. Urinalysis may be undertaken with a simple test strip at the point of care, to monitor for the presence of abnormalities that may or may not be associated with diabetes (e.g. the absence, presence and likely level of glucose, protein or white blood cells in the urine, as indicators of diabetes control, kidney function and urinary tract infection, respectively). The presence of ketones may also be tested, as an indication of diabetic ketoacidosis. Urinalysis can also involve 24-h urine collection and bacterial culturing, although these are secondary to the standard point-of-care urinalysis undertaken routinely and regularly in people with diabetes
Originally referred to immunization against smallpox with the less virulent cowpox (vaccinia) virus, more loosely used for any immunization against a pathogen. It can be defined “active immunization” because it is aimed to stimulate an immune reaction against a specific antigen.
This is usually used to describe patients with PKU who have some residual activity ofphenylalanine hydroxylase. Blood phenylalanine levels are usually lower than in classical PKU, although a phenylalanine-restricted diet is still usually necessary. People with residual activity ofphenylalanine hydroxylase are more likely to respond to treatment with sapropterin than people with classical PKU.
A collection of varicose veins that cause increased blood circulation in the testicles, leading to elevated scrotal temperatures, which in turn, may adversely affect sperm count and quality, resulting in male infertility.
The elective surgical procedure involving the separation of the vasa deferentia are then severed and either tied or sealed for permanent birth control.
A life-threatening cardiac arrhythmia characterised by rapid, irregular and ineffective twitching of the ventricles.
A form of cholesterol found in blood that, at high levels, is associated with the development of cardiovascular disease
BP readings taken in clinical settings that indicate hypertension that is not present in normal daily life.
The CNS contains ‘grey matter’, containing the bodies of nerve cells, and ‘white matter’, which is made mainly of nerve fibres (axons). Long-term sub-optimal control of blood phenylalanine has been observed to cause damage to white matter in the brain.
World Hypertension League. See http://www.worldhypertensionleague.org/
Years of life with disability
Years of life lost
An oocyte which is fertilized but has not yet begun the division process.
An assisted reproductive technique that involves retrieval of ova, combining them with sperm and then leaving the fertilized ova to develop for one day in an incubator. The resulting zygote is then transferred to the fallopian tubes.
