P3 - ECE_1584 - A novel homozygous mutation of CYP17A1 gene in a 20-year old 46, XY phenotypical male with hypergonadotropic hypogonadism and gynecomastia
The findings demonstrate that residual CYP17A1 activity can mask the classic phenotype, and 17-OHD should remain in the differential diagnosis of young men with unexplained hypogonadism, particularly when any features of disordered sex development are present.