congenital adrenal hyperplasia (CAH)
Masculinization of children caused by excessive androgens from the adrenal glands, often resulting in extreme height velocity, acne, pubarche, and virilization. If left untreated, true central puberty results.
Adrenal attempts to compensate for low levels of aldosterone cause an overproduction of adrenal androgens, resulting in premature puberty in males.
Early appearance of pubic and axillary hair
In boys, early development of masculine characteristics:
Small testes until HPG activation
In various forms of CAH, both boys and girls will be tall as children, but if left untreated will be significantly shorter than normal as adults.
In a newborn boy no obvious abnormality is present, but long before puberty normally occurs, the child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens. Affected males may appear to enter puberty as early as 2-3 years of age. The testes are small. Left untreated, the excess level of sex hormones often triggers true precocious puberty, which will require separate treatment.
Treatment for CAH:
Currently, standard medical treatment consists of giving a glucocorticoid (a cortisol-like steroid medication, e.g., oral hydrocortisone) in children. A known complication of high dose glucocorticoids is growth inhibition.
The goal of treatment is to return hormone levels to normal. This is achieved by daily administration of forms of cortisol: dexamethasone, fludrocortisone, or hydrocortisone. Additional doses of medicine are required during times of stress such as severe illness or surgery.
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