ADRENOGENITAL SYNDROME

a complex of symptoms resulting from an excessive secretion of androgenic 17-ketosteroids by the adrenal cortex. (These androgenic hormones further the development of masculine secondary sexual characteristics-the growth of body hair, deepening of the voice, development of male body build, and so on.) The adrenogenital syndromes of infancy and childhood are caused by genetically determined deficiencies in the synthesis of cortisol by the adrenal glands, with a resulting excess of androgen production by those glands. The impending or actual shortage of cortisol triggers an increased secretion of adrenocorticotropic hormone (ACTH) by the pituitary gland, which in turn increases cortisol production by the adrenals back to normal but also simultaneously raises above normal the adrenals' production of androgens (i.e., the androgenic 17-ketosteroids). In infantile adrenogenital syndromes, simple virilism (the development of masculine secondary sexual characteristics in the female or their precocious development in the preadolescent male) is the chief result. The syndrome may produce malelike genital changes (pseudohermaphroditism) in females and excessive penile development with small testes in males. A deep melanin skin pigmentation is usually present, and there may also be an abnormal loss of sodium, severe hypertension, lipoid hyperplasia, dehydrogenase deficiency, or altered levels of steroid hormone production in general. In adults the adrenogenital syndrome, since it causes masculinization, may be relatively unnoticed in the male, but it brings about virilism in the female. She develops a male body build, receding hairline, facial and body hair, atrophic breasts, acne, enlargement of the clitoris, and an irreversible deepening of the voice. Menstruation and ovulation cease, and there is a heavy masculine musculature.