Abstract
Congenital adrenal hyperplasia(CAH) is an umbrella term for inherited enzymatic deficiencies in cortisol synthesis.It′s a monogenic, autosomal-recessive genetic disease.It is mainly divided into 21-hydroxylase deficiency, 11β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase type 2, 17α-hydroxylase deficiency, lipoid CAH and P450-oxidoreductase deficiency, and the clinical phenotype is complicated.Further study of the relation of the genotypes to the clinical symptoms of various types of CAH contributes to the understanding, diagnosis, individualized treatment and genetic counseling of the disease.The influence of CAH related early prenatal diagnosis, modified genes, environmental factors on phenotype and the value of total exon sequencing are also worthy of further study.This article reviews genetic development in recent years and future research directions of the disease. Key words: Congenital adrenal hyperplasia; Inheritance; Gene
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