21-羟化酶缺乏导致肾上腺皮质增生症的研究进展

先天性肾上腺皮质增生症（Congenital adrenal hyperplasia，CAH）属于常见常染色体隐性遗传病，有着广泛的临床表现。CYP21A2基因是先天性肾上腺皮质增生症的致病基因，90％-95％的21-羟化酶缺乏症患者在CYP21A2基因上存在有害突变。了解CYP21A2基因编码区的常见突变谱和突变热点，主要包括基因的点突变、小缺失、小插入和完全重组等，同时分析基因型与表现型的关系，有着重要的意义。本研究在阐述2-羟化酶缺乏症的分子基础上，就近几年国内外21-羟化酶缺乏症相关内容进行简要综述。

The latest research progress of 21-hydroxylase deficiency leading to adrenal hyperplasia.

Congenital adrenal hyperplasia （CAH） is a frequent autosomal recessive disease, with a wide range of clinical manifestations. The major cause of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which accounts for 90%-95% of all cases in most populations commonly attributable to deleterious mutations in the 21-hydroxylase gene （CYP21A2） . Understanding of coding region of CYP21A2 gene mutation spectrum and common mutation, including gene point mutations, large gene deletions, insertions and small small complete reorganization and simultaneous analysis of the connections between genotype and phenotype, is of important significance. In this article, we briefly reviewed the molecular basis of 21- hydroxylase deficiency at home and abroad and the related eoncents of 21- hydroxylase deficiency in recent years.