[Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia].

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to impaired cortisol secretion. Approximately 95% of CAH cases are caused by defects in the 21-hydrodylase2 (CYPA2) gene. The spectrum of clinical manifestations includes a severe and mild form of expression.