2例合并2型糖尿病的17α-羟化酶/17,20-裂解酶缺陷症患者基因诊断和临床分析  

Genetic diagnosis and clinical analysis of 17α-hydroxylase/17,20-lyase deficiency in two patients complicated with type 2 diabetes mellitus

作　　者：胥方琴 韩兵[1] 朱惠[1] 朱文娇[1] 王浩[1] 郭明皓[1] 顾婷[1] 陆颖理[1] 吴万龄[1] 乔洁[1] XU Fangqin;HAN Bing;ZHU Hui;ZHU Wenjiao;WANG Hao;GUO Minghao;GU Ting;LU Yingli;WU Wanling;QIAO Jie(Department of Endocrinology,the Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院内分泌科,上海200011

出　　处：《中华实用诊断与治疗杂志》2019年第4期333-336,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家自然科学基金(91570753)

摘　　要：目的探讨2例合并2型糖尿病的17α-羟化酶/17,20-裂解酶缺陷症(17-hydroxylation/17,20-lyase deficiency, 17OHD)患者的临床特点、基因诊断和治疗方法。方法回顾性分析2例17OHD合并2型糖尿病患者的临床资料、实验室检查和影像学结果,2例患者均行外周血DNA抽提,采用PCR扩增CYP17A1基因后进行基因测序。结果 2例均表现为高血糖、高血压、低血钾、原发性闭经和第二性征发育不良,实验室检查提示促肾上腺皮质激素明显升高,皮质醇降低,孕酮升高,空腹及餐后血糖升高,多种免疫自身标记阴性;例1同时存在CYP17A1基因外显子1 R96Q杂合点突变及外显子8 Arg487-Ser488-Phe489缺失的杂合突变,例2为外显子8 Arg487-Ser488-Phe489缺失的纯合突变。结论17OHD合并2型糖尿病患者临床表现复杂,激素测定、影像学检查和CYP17A1基因检测有助于早期诊断,其机制尚不明确。Objective To investigate the clinical features, genetic diagnosis and treatment of 17α-hydroxylation/17,20-lyase deficiency(17 OHD) in two patients complicated with type 2 diabetes mellitus(T2 DM). Methods The clinical data, laboratory examinations and imaging examinations of 17 OHD were retrospectively analyzed in two 17 OHD patients complicated with T2 DM. The peripheral blood DNA was extracted, CYP17 A1 gene was amplified and direct sequencing of PCR products was performed. Results Two patients presented as hyperglycemia, hypertension, hypokalemia, primary amenorrhea and lack of puberty development. Laboratory examinations showed significantly increased levels of adrenocorticotropic hormone, progesterone, fasting plasma glucose and postprandial plasma glucose, decreased level of cortisol, and negative of multiple immune autoantibodies. One patient was identified heterozygous mutation of R96 Q in exon 1 and Arg487-Ser488-Phe489 deletion in exon 8 of CYP17 A1 gene, and the other patient was observed a homozygous mutation of Arg487-Ser488-Phe489 deletion. Conclusion 17 OHD presents complex clinical manifestations in T2 DM patients. Hormone determination, imaging examination and CYP17 A1 genotyping analysis are helpful for early diagnosis. And its mechanism is not clear.

关 键 词：17α-羟化酶/17 20-裂解酶缺陷症 2型糖尿病 先天性肾上腺增生症 CYP17A1基因 

分 类 号：R587.1[医药卫生—内分泌] R586[医药卫生—内科学]