Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by pathogenic variants identified in seven genes (CYP21A2, CYP11B1, CYP17A1, HSD3B2, StAR, POR, and CYP11A1) involved in the steroidogenesis pathway [1]. Here, CYP21A2 is linked to congenital adrenal hyperplasia.