IMPE Abstracts

Introduction: Cytochrome P450 oxidoreductase (POR) acts as a redox partner of all microsomal cytochrome P450s which metabolize drugs and steroid hormones. Mutations in POR cause congenital adrenal hyperplasia (CAH) and/or disorders of sexual development (DSD) due to defective biosynthesis of steroid hormones in the adrenal and gonads, and affect the hepatic metabolism of drugs. The variant V631I was previously identified only in healthy heterozygous carriers. ...