Clinical characteristics and mutation analysis of Chinese children with 17α-hydroxylase deficiency: a report on three cases

17α-hydroxylase deficiency (17-OHD) is an uncommon type of congenital adrenal hyperplasia. It manifests as hypokalemia, hypertension, and hypergonadotropic hypogonadism and arises from a mutation in the CYP17A1 (cytochrome P450 17A1) gene. Diagnosis for children with 17-OHD remains challenging, and the means to arriving at a timely diagnosis are needed.