提高非经典21羟化酶缺乏症临床诊治水平： 局限与展望
广州医科大学附属第三医院内分泌代谢科（广州510150）
网络出版日期: 2023-01-10
基金资助
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）
Clinical diagnosis，treatment and progress of non ⁃ classical 21 hydroxylase deficiency
Department of Endocrinology and Metabolism，the Third Affiliated Hospital of Guangzhou Medical University， Guangzhou 510150，China
Online published: 2023-01-10
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。
关键词：
先天性肾上腺增生症
张莹 刘恩
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提高非经典21羟化酶缺乏症临床诊治水平： 局限与展望
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.
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