Ambiguous genitalia in the newborn may be caused by a number of different conditions, including the incomplete form of androgen resistance syndrome (testicular feminization), gonadal dysgenesis, and inability to convert testosterone to its active metabolite, dihydro-testosterone, due to deficiency of the nonadrenal enzyme 5a-reductase. Initial evaluation of all such patients should include karyotype analysis, radiographic imaging of the pelvis to identify internal genital anatomy, and basal and appropriately stimulated concentrations of hormones in the mineralocorticoid, glucocorticoid, and sexsteroid pathways. The diagnosis of 21-hydroxylase deficiency is strongly suspected in a female when the karyotype is 46,XX, a uterus is detected, and there are no male (wolffian) internal genital structures. In newborn males, the first manifestation of the disease is salt-wasting adrenal crisis. Clues to the diagnosis in older males are usually rapid linear growth and signs of androgen excess with disproportionately small testes. The latter sign differentiates gonadal from extragona-dal pseudopuberty, as in congenital adrenal hyperplasia.
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