[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening].

BACKGROUND AND OBJECTIVE Congenital Adrenal Hyperplasia (CAH) is not an infrequent genetic disorder for which mutation-based analysis for CYP21A2 gene is a useful tool. Contrarily to salt-wasting forms the basic mutation screening accounts only for 83% of simple virilising (SV) phenotypes. Rare alleles with a local distribution not included in the basic… (More)