NORMAL EXTERNAL GENITALIA IN A FEMALE WITH CLASSICAL CONGENITAL ADRENAL-HYPERPLASIA WHO WAS NOT TREATED DURING EMBRYOGENESIS

Classical congenital adrenal hyperplasia (CAH) results from an inherit ed enzymatic defect in cortisol synthesis and more than 90 per cent of cases are due to 21-hydroxylase deficiency. The androgen excess assoc iated with this condition typically results in ambiguous external geni talia in affected females. It has been shown that prenatal treatment w ith dexamethasone is successful in preventing or reducing genital ambi guity in affected females. Rather than treating with dexamethasone: so me couples choose to terminate the pregnancy when an affected fetus is prenatally diagnosed. We report a female with classicial CAH who was born with normal external genitalia, although maternal treatment with dexamethasone did not begin until 16 weeks' gestation. (C) 1998 John W iley & Sons, Ltd.