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先天性肾上腺皮质增生症（ＣＡＨ）是一种家族性常染色体隐性遗传病，９０％的ＣＡＨ是由于２１－羟化酶缺陷（２１－ＯＨＤ）所引起。本综述着重于２１－ＯＨＤ症基因的特征、表现型的分子基础、产前诊断和新生儿筛查等方面。
Congenital adrenal hyperplasia (CAH) is a familial autosomal recessive disease and 90% of CAH is caused by 21-OHD deficiency (21-OHD). This review focuses on the characteristics of the 21-OHD disease gene, the molecular basis of phenotype, prenatal diagnosis, and neonatal screening.