IMPE Abstracts

Congenital adrenal hyperplasia (CAH) is a monogenic autosomal recessive disorder that may involve different steroidogenic enzymes. POR (P450 oxidoreductase) deficiency is a rare variant of unknown incidence and is the most complex form of CAH. POR is an electron-donating enzyme for CYP17A1, CYP21A2, and CYP19A1. Clinically it can be observed as a combined deficiency of CYP17A1, CYP21A2, and secondary to the donating defect to aromatase, the mother can become virilized during p...