hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH),which is caused by the mutation of CYP11B1 gene that encodes the enzyme.

• 羟化酶缺乏症是引起先天性肾上腺增生症的主要病因之一,由编码该酶的CYP11B1基因突变引起。