Novel beta-thalassemia mutation in patients of Jewish descent: [beta 30(B12)Arg-->Gly or IVS-I(-2)(A-->G)]

Classical congenital adrenal hyperplasia (CAH) results from an inherited enzymatic defect in cortisol synthesis and more than 90 per cent of cases are due to 21-hydroxylase deficiency. The androgen excess associated with this condition typically results in ambiguous external genitalia in affected females. It has been shown that prenatal treatment with dexamethasone is successful in preventing or reducing genital ambiguity in affected females. Rather than treating with dexamethasone, some couples choose to terminate the pregnancy when an affected fetus is prenatally diagnosed. We report a female with classical CAH who was born with normal external genitalia, although maternal treatment with dexamethasone did not begin until 16 weeks' gestation.