17α-羟化酶/17,20碳链裂解酶缺陷症的研究进展及挑战  

The development and challenges of 17α-hydroxylase/17,20 carbon chain lyase deficiency research

作　　者：张一鸣[1] 祝捷 叶山东 Zhang Yiming;Zhu Jie;Ye Shandong(Department of Endocrinology,the First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei 230001,China)

机构地区：[1]中国科学技术大学附属第一医院(安徽省立医院)内分泌科,合肥230001

出　　处：《中国临床保健杂志》2022年第2期285-288,共4页Chinese Journal of Clinical Healthcare

基　　金：中央引导地方科技发展专项资金项目(2017070802D147)。

摘　　要：17α-羟化酶缺陷症是先天性肾上腺皮质增生症的一种罕见类型。以女性原发性闭经、男性假两性畸形、低肾素型高血压、低钾血症为主要临床表现。该病为罕见病且临床表现复杂,容易发生误诊。该文对17α-羟化酶缺陷症研究的发展与当前面临的挑战进行综述,有利于该病患者的明确诊断和及时干预。17α-hydroxylase deficiency is a rare type of congenital adrenal hyperplasia.The main clinical manifestations are female primary amenorrhea,male pseudohermaphroditism,hypertension,and hypokalemia.This disease is a rare disease with complex clinical manifestations and is prone to misdiagnosis.This review focuses on the development and current challenges of 17α-hydroxylase deficiency research,which is conducive to the clear diagnosis and seasonable intervention of patients with this disease.

关 键 词：肾上腺增生 先天性 基因表达 遗传变异 综述 

分 类 号：R586[医药卫生—内分泌]