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先天性肾上腺皮质增生症(CAH)是一个肾上腺类固醇激素合成障碍的遗传性疾病,由于遗传上的缺陷致类固醇激素合成途径中一些必需酶缺乏而引起,其中最常见的是21羟化酶缺乏(21OHD),它占CAH的90％以上。21OHD的主要临床表现为男性化,临床上仅表现雄激素过多而无失盐表现者称单纯男性化型;若同时合并失盐表现者则称失盐型。失盐型与单纯男性化型在临床表现的男性化程度是相同的。
Congenital adrenal hyperplasia (CAH) is a hereditary disorder of adrenal steroid hormone synthesis that is caused by a number of essential enzyme deficiencies in the steroidogenic pathway due to genetic defects, the most common being 21-hydroxylase deficiency ( 21OHD), which accounts for more than 90% of CAH. The main clinical manifestations of 21OHD masculine, clinical manifestations of excessive androgen only without loss of salt performance were described as simple masculine; if at the same time the performance of those who lost salt said loss of salt. Loss of salt and simple masculine masculinity in clinical manifestations is the same.