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Glossary of Terms Related to Congenital Adrenal Hyperplasia (CAH)

The bulk of these definitions are from three primary sources: MedLinePlus Health Information, Genetic Home Reference and CancerWeb’s online dictionary.

Also known as 17-OHP, this is a 21-carbon steroid produced by adrenals, ovaries, testes and placenta. 17 OHP is the metabolite of progesterone and 17-hydroxyprognenolone, and is a precursor to cortisol.
An intermediary hormone produced as a part of the body’s production of aldosterone and cortisol. Deficiency denotes Congenital Adrenal Hyperplasia. Chart.
adj 1: of or pertaining to the adrenal glands or their secretions 2: near the kidneys. n: either of a pair of complex endocrine glands situated near the kidney.
An abrupt, life-threatening state caused by insufficient cortisol, a hormone produced and released by the adrenal gland.
Triangular shaped glands located on top of the kidneys. They produce hormones such as testosterone, progesterone, aldosterone, and cortisol, and chemicals such as adrenaline (epinephrine), norepinephrine, and dopamine. When the glands produce more or less hormones than required by the body, disease conditions may occur.
A steroid hormone produced by the adrenal cortex, that controls salt and water balance in the kidney. Abnormally high levels of this hormone cause sodium retention, high blood pressure, heart rhythm irregularities and possibly paralysis.
A congenital physical abnormality where the outer genitals do not have the typical appearance of either sex.
A class of sex hormones associated with the development and maintenance of the secondary male sex characteristics, sperm induction, and sexual differentiation. In addition to increasing virility and libido, they also increase nitrogen and water retention and stimulate skeletal growth.
A drug that prevents the formation of estradiol, a female hormone, by interfering with an aromatase enzyme. Aromatase inhibitors are used as a type of hormone therapy for postmenopausal women who have hormone-dependent breast cancer, and recently has been used experimentally to slow down boning in children.
Describes a trait or disorder in which the phenotype is expressed in those who have inherited only one copy of a particular gene mutation (heterozygotes); specifically refers to a gene on one of the 22 pairs of autosomes (non-sex chromosomes). Learn more
Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes) Learn more
Any reconstructive surgery procedure on the clitoris.
Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation.
A steroid drug. It is similar to cortisol, which is made in the adrenal glands. The drug has anti-inflammatory effects in the body which is the desired action.
The major adrenal glucocorticoid, stimulates conversion of proteins to carbohydrates, raises blood sugar levels and promotes glycogen storage in the liver.
A special X-ray study which allows visualization of the bladder and urethra on X-ray. A catheter is placed into the urethra, through which a radio-opaque contrast material is injected. Subsequent X-rays will show the anatomy of the bladder and urethra.
Steroid analogue (glucocorticoid), used as an anti-inflammatory drug.
The scientific study of the function and pathology of the endocrine glands (for example the thyroid gland, pituitary gland, etc.)
A medically qualified specialist in internal medicine or pediatrics who has sub-specialized in the diseases of glandular organs; for example, diabetes mellitus.
A medication that is used to decrease potassium in the blood. Also called fludrocortisol and fludrocortisone acetate. Florinef, the brand, is no longer manufactured in the USA.
Corticosteroid substances (drugs or hormones) that are involved in carbohydrate metabolism by promoting gluconeogenesis and the formation of glycogen at the expense of lipid and protein synthesis. They are steroid based and possess anti-inflammatory and immunosuppressive properties. Glucocorticoids are also produced normally by the adrenal cortex and provide for the response to stress.
Gonadotropin-releasing hormone. A hormone made by the hypothalamus (part of the brain). GnRH causes the pituitary gland to make luteinizing hormone (LH) and follicle-stimulating hormone (FSH). These hormones are involved in reproduction. Also called LH-releasing hormone (LHRH).
(Not applicable to Congenital Adrenal Hyperplasia) An organism which has both male and female organs, and produces both male gametes (sperm) and female gametes (eggs). The organism can have both types of organs at the same time (simultaneous hermaphrodite) or have one type early in life and the other type later in life (sequential hermaphrodite).
The main glucocorticoid secreted by the adrenal cortex. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.
The abnormal multiplication or increase in the number of normal cells in normal arrangement in a tissue.
A type of enzyme which adds -OH groups to its substrate during hydroxylation reactions by attaching oxygen atoms to it.
A condition caused by higher than normal level of potassium in the bloodstream.
A disorder of fluid and electrolyte balance caused by excessive release of antidiuretic hormone (ADH). Also known as Dilutional hyponatremia and Syndrome of Inappropriate Secretion of Antidiuretic Hormone (SIADH).
(Not applicable to Congenital Adrenal Hyperplasia) Relating to or characterized by the condition of having both male and female characteristics; being intermediate between the sexes. (Learn more)
The complete set of chromosomes of a cell or organism. Used especially for the display prepared from photographs of mitotic chromosomes arranged in homologous pairs. (Learn more)
Another name for non-classical CAH which occurs in approximately 1 out of 100 people, and as high as 1 in 27 in some ethnic populations. Presents later into infancy, or can even be acquired in adulthood.
(Leuprolide) The acetate salt of a synthetic nonapeptide analogue of gonadotropin-releasing hormone. Leuprolide binds to and activates gonadotropin-releasing hormone (GnRH) receptors. Continuous, prolonged administration of leuprolide in males results in pituitary GnRH receptor desensitization and inhibition of pituitary secretion of follicle stimulating hormone (FSH) and luteinizing hormone (LH), leading to a significant decline in testosterone production; in females, prolonged administration results in a decrease in estradiol production. This agent reduces testosterone production to castration levels and may inhibit pubertal progression.
Any substance produced or used during metabolism (digestion). In drug use, a metabolite usually refers to the end-product (what is remaining after metabolism).
A glucocorticoid with the general properties of the corticosteroids. It is the drug of choice for all conditions in which routine systemic corticosteroid therapy is indicated, except adrenal deficiency states. Pharmacological action: steroidal anti-inflammatory agents, antineoplastic agent, hormonal, glucocorticoids, synthetic. Chemical name: Pregna-1,4-diene-3,20-dione, 11,17,21-trihydroxy-, (11beta).
Synthetic corticosteroid with powerful anti-inflammatory and antiallergic activity.
A precursor hormone synthesized from cholesterol, principally in the adrenal glands, but also in the liver, skin, brain, testicles, ovaries, and retina of the eyes. Also called pregenolone.
Female sex hormone that induces secretory changes in the lining of the uterus essential for successful implantation of a fertilized egg.
An abnormality of anterior urethral development in which the urethral opening is ectopically located on the ventrum of the penis proximal to the tip of the glans penis. The opening may be as proximal as the scrotum or perineum. The more proximal the urethral defect, the more likely the penis will have associated ventral shortening and curvature, called chordee.
A group of hormones (the most important being aldosterone) that regulate the balance of water and electrolytes (ions such as sodium and potassium) in the body. The mineralocorticoid hormones act on the kidney (and specifically on the tubules of the kidney).
See autosomal recessive.
The process of developing masculine sex characteristics in a female. May include an increase in body hair, facial hair, deepening of the voice, male-pattern baldness, and clitoral enlargement. May result from excessive testosterone production in endocrine glands or use of anabolic steroids.

Vocabulary Related to Hairloss

Male sex hormones, made in the testes in men, ovaries in women, and the adrenals in both men and women.
The period when hair is actively growing. Protein and Keratin are continuously made in this phase.
A transitional period where the hair undergoes chemical and structural changes and ultimately stops actively growing.
A medication that blocks the action of androgens such as testosterone; found, in combination with ethinylestradiol in the drugs Diane and Dianette. (Not approved for use alone in United States.)
A medication which usually causes excess urination
A topical analgesic (painkiller) which can be purchased over the counter, used to help children with pain of frequent blood test.
A topical analgesic (painkiller) which can be purchased with a prescription. While not currently available, EMLA should be put back on the market in late ’03.
A form of estrogen found in some oral contraceptives.
A method of rating the severity of hirsutism on a scale of 0-44 with a score of 44 indicating the most severe hirsutism.
Inflammation of the hair follicle. Inflammation involves redness, swelling and pain.
Excess terminal hair growth in response to high androgen levels.
Excess terminal hair growth in parts of the body not androgen sensitive.
Loss of normal skin color. Hypopigmentation is often permanent.
A protein found in both hair and skin.
Dark brown to black pigment (color) found in both hair and skin.
A common condition involving the mitral valves of the heart. Most people with mitral valve prolapse have no symptoms and never need treatment but, if the condition is diagnosed, antibiotics are usually prescribed before surgery or dental work to prevent the possibility of infection of the heart.
A condition, often caused by excess circulating androgens, involving enlarged ovaries with multiple cysts. Polycystic ovaries usually produce excess androgens too. Also known as PCO.
A medication which blocks the action of androgens such as testosterone
The final phase of the hair growth cycle where the hair has completely stopped growing and enters a resting phase prior to falling out.
Dark, coarse and thick hair
Fine, pale and silky hair