先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)是一组常染色体隐性遗传疾病,由肾上腺皮质激素合成途径中酶的缺陷所引起。最常见的酶缺陷类型为21-羟化酶缺乏(21-hydroxylase deficiency,21-OHD),占酶缺陷类型的90%,根据酶的缺陷程度又分为经典型及非经典型两种临床类型,儿童中主要为经典型。经典型21-OHD又分为完全缺乏和不完全缺乏两 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disease caused by defects in enzymes in the adrenocorticotropic hormone synthesis pathway. The most common type of enzyme deficiency is 21-hydroxylase deficiency (21-OHD), accounting for 90% of the type of enzyme deficiency. According to the degree of enzyme deficiency, it is divided into two types: classical and non-classical The majority of children are classic. The classic 21-OHD is divided again into a complete lack of and an incomplete lack of two