提高非经典21羟化酶缺乏症临床诊治水平:局限与展望  

Clinical diagnosis,treatment and progress of non-classical 21 hydroxylase deficiency

作　　者：张莹[1] 刘恩[1] ZHANG Ying;LIU En(Department of Endocrinology and Metabolism,the Third filiated Hospital of Guangzhou Medical University,Guangzhou 510150,China)

机构地区：[1]广州医科大学附属第三医院内分泌代谢科,广州510150

出　　处：《实用医学杂志》2023年第1期1-5,共5页The Journal of Practical Medicine

基　　金：广东省自然科学基金项目(编号:2021A1515111148);广州市卫生健康科技项目(编号:20221A011091);广州市科技计划项目(编号:202102010084)。

摘　　要：非经典21羟化酶缺乏症(NC-21OHD)是最常见的常染色体隐性遗传病之一,但其临床表现多种多样,缺乏特异性,常与多囊卵巢综合征(PCOS)混淆,极易漏诊误诊。同时,NC-21OHD患者的循证诊断和治疗、随访管理策略仍然面临许多困难,有不少具争议性的科学问题,本文着重从其临床特征、诊断与治疗等方面进行系统地阐述,以期提高临床对该病的认识。Non-classical 21-hydroxylase deficiency(NC-21OHD)is one of the most frequent autosomal recessive hereditary diseases.Its phenotype is usually considered diverse and lack specificity,such as polycystic ovarian syndrome(PCOS)and frequently misdiagnosed.Meanwhile,evidence-based diagnosis and follow-up management strategies faces many difficulties and many controversial scientific problems due to NC-21OHD.We systematically discuss the clinical features,diagnosis and therapy to improve the awareness of the disease.

关 键 词：先天性肾上腺增生症 非经典型21-羟化酶缺乏症 17-羟基孕酮 CYP21A2基因 多囊卵巢综合征 生育力 

分 类 号：R586[医药卫生—内分泌]