Anna Nogieć

P3 - ECE_1584 - A novel homozygous mutation of CYP17A1 gene in a 20-year old 46, XY phenotypical male with hypergonadotropic hypogonadism and gynecomastia

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders of adrenal steroidogenesis. 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare subtype (~1% of CAH) caused by pathogenic variants in CYP17A1. In 46, XY individuals, complete deficiency typically leads to female or ambiguous exter...