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Term Glossary

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A

ACTH: Adrenocorticotropic hormone, produced by the pituitary gland; stimulates the adrenal gland to produce cortisol and androgens.

Adrenal Glands: Located above the kidneys. When functioning properly, they produce aldosterone, cortisol, and androgens in sufficient quantities for the body to function normally.

Adrenarche: Onset of puberty resulting from secretion of hormones by the adrenal gland.

Amenorrhea: Absence of menstruation or abnormal cessation of menstruation.

Androgens: Male sex hormones, made in the testes in men, ovaries in women, and the adrenal cortex in men and women.

C

Carrier: A person who has one out of two genes for an inheritable condition, without being affected by the condition.

Clitoris: A small organ situated above the vagina that can be sexually stimulated.

Congenital adrenal hyperplasia (CAH): An inherited disorder of the adrenal glands resulting in insufficient cortisol production.

Cortex: Outer portion of the adrenal gland, which makes steroid hormones.

Cortisol: A steroid hormone made by the adrenal cortex. It maintains the energy supply, and helps the body react to stress. It is deficient in 21-hydroxylase deficiency CAH.

E

Enzyme: A substance needed for a chemical reaction to occur.

Estrogen: The principal female sex hormone; made by the ovaries.

F

Fecundity: Ability to conceive a child repeatedly.

G

Gene: A unit of heredity located on a chromosome; transmits a characteristic from parent to offspring.

Gonadal: Relating to the testis or ovary. The organs that produce sex cells (testis and ovary) are the gonads.

Gynecomastia: Enlarged and sometimes engorged breasts in males.

H

Heterogeneous: Mixed.

Hirsutism: Excessive facial or body hair.

Hormone: A "chemical messenger", made in an endocrine gland. It is sent through the blood to "target" body organs, stimulating certain life processes and stopping others, as needed by the body.

Hyperandrogenemia: Excessive amounts of male-like hormones (androgens) circulating in the blood.

Hypospadias: A birth defect in which the urethra (channel from the bladder through which urine is excreted) may be open on the undersurface of the penis.

M

Menarche: Onset of menstrual periods.

O

Oligozoospermic: Having a sparse number of sperm cells in the penile ejaculate.

Ovaries: Female reproductive organs containing the eggs.

P

Pituitary gland: The "master gland", located in the brain. It regulates the thyroid, adrenal, sex, and mammary glands. The pituitary is regulated by the hypothalamus to which it is connected.

Pubarche: Appearance of pubic hairs as part of the onset of puberty.

R

Recessive Genetic Disorder: A disorder that does not show symptoms in a person unless two affected genes are inherited, one from each parent.

S

Salt Wasters: Classic CAH patients who lack the sodium-retaining hormone, aldosterone. Patients have insufficient cortisol and high androgens. This disorder is life-threatening if left untreated.

Salt Wasting: Excreting salt in the urine instead of retaining it in the blood.

Secretion: Material made by a cell or gland (an aggregation of cells), which may be stored or used by the body.

Simple Virilizers: Classic CAH patients who have low cortisol and high androgens, but who are not salt-wasters.

Sodium-Retaining Hormone: Aldosterone, made by the adrenal cortex. It acts on the kidney to help return salt from the urine into the blood and get rid of potassium.

Steroid hormones: Hormones ("chemical messengers," see above) that include molecules arranged in a particular chemical structure resembling a ring, which makes them "steroids." Steroids as a chemical family include some hormones, vitamins, drugs, and elements of the body.

Synthesis: Making, putting together.

V

Virilizing: Giving masculine characteristics, such as beard, male-looking genitalia, male body shape.

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