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Congenital adrenal hyperplasia

Alternative Names: Adrenogenital syndrome; 21-hydroxylase deficiency Symptoms: In girls: Ambiguous genitalia Early appearance of pubic and axillary (armpit) hair Excessive hair growth Deep voice Abnormal menstrual periods Failure to menstruate In boys, early development of masculine characteristics: Well-developed musculature Enlarged penis Small testes Early appearance of pubic and axillary hair Both boys and girls will be tall as children but significantly shorter than normal as adults. Signs and tests: Decreased aldosterone and cortisol in blood Elevated urinary 17-ketosteroids Normal or decreased urinary 17-hydroxycorticosteroids Elevated 17-OH progesterone in blood Elevated serum DHEA sulfate X-ray for bone age (demonstrates markedly advance bone age above chronological age) Abnormal salt levels in blood (serum electrolytes) in urine Genetic testing is often helpful in diagnosing or confirming the disease and can be useful in the management of the condition. This disease may also alter the results of the following tests: Pregnanediol Estriol - urine Estriol - serum Text Continues Below

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