先天性肾上腺皮质增生症罕见类型  

Rare type of congenital adrenal hyperplasia

作　　者：陈瑞敏 李云斐 袁欣 

机构地区：[1]福州儿童医院内分泌科,福建医科大学教学医院,350000

出　　处：《中华实用儿科临床杂志》2015年第8期570-574,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：先天性肾上腺皮质增生症（CAH）是一组因肾上腺皮质激素合成途径中酶缺陷引起的常染色体隐性遗传病,除常见的21-羟化酶、11β-羟化酶缺陷外,尚包括3β-羟类固醇脱氢酶缺乏症、17α-羟化酶缺乏症及先天性类脂质性肾上腺皮质增生症（CLAH）等罕见类型,临床表现多样,易漏诊或误诊.现重点介绍以上3个罕见类型CAH的分子遗传学、病理生理、临床表现及诊疗原则.Congenital adrenal hyperplasia （CAH） is an autosomal recessive genetic disease due to glucocorticoid biosynthesis enzyme deficiency,in addition to the common types such as 21-hydroxylase,11 β-hydroxylase deficiency,also include rare types such as 3 β-hydroxysteroid dehydrogenase deficiency,17α-hydroxylase deficiency and congenital lipoid adrenal hyperplasia （CLAH）.These rare types of CAH have multiple clinical manifestations,which are easily missed or misdiagnosed.This article focus on molecular genetics,pathophysiology,clinical manifestations and treatment principles of above 3 rare types of CAH.

关 键 词：先天性肾上腺皮质增生症 3β-羟类固醇脱氢酶缺乏症 17Α-羟化酶缺乏症 先天性类脂质性肾上腺皮质增生症 

分 类 号：R725.8[医药卫生—儿科]