17α-羟化酶缺乏症是先天性肾上腺皮质增生(congenital adrenal hyperplasia,CAH)中最罕见的一种类型,约占所有CAH的1%左右。该病是一种常染色体隐性遗传病,是由于CYP17A1基因突变所导致。CYP17A1基因产生突变,使17α-羟化酶合成障碍,肾上腺和性腺的合成功能受影响,引起糖皮质激素、性激素的合成下降同时伴有盐皮质激素的合成 17α-hydroxylase deficiency is the most common type of congenital adrenal hyperplasia (CAH), accounting for about 1% of all CAH. The disease is an autosomal recessive disease that results from a mutation in the CYP17A1 gene. CYP17A1 gene mutations, the 17α-hydroxylase synthesis disorder, the adrenal gland and gonadal synthesis function affected, causing glucocorticoid, sex hormone synthesis decreased accompanied by mineralocorticoid synthesis