Genetic progress and future research directions of congenital adrenal hyperplasia / 国际儿科学杂志

ABSTRACT

Congenital adrenal hyperplasia( CAH) is an umbrella term for inherited enzymatic deficien-cies 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 under-standing,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 sequen-cing are also worthy of further study. This article reviews genetic development in recent years and future research directions of the disease.