CYP17A1基因His373Asn纯合突变的17α-羟化酶/17,20碳链裂解酶缺陷症合并糖尿病1例临床分析  

His373Asn homozygous mutation of CYP17A1 gene in one case of 17α-hydroxylase/17,20-lyase deficiency complicated with diabetes mellitus

作　　者：吴姗渝 夏筑瑛 张雅楠 雷闽湘[1] 罗湘杭[1] 张冬梅[1] WU Shan-yu;XIA Zhu-ying;ZHANG Ya-nan;LEI Min-xiang;LUO Xiang-hang;ZHANG Dong-mei(Department of Endocrinology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China)

机构地区：[1]中南大学湘雅医院内分泌科,湖南长沙410008

出　　处：《中华实用诊断与治疗杂志》2022年第2期165-167,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家自然科学基金(82070884);长沙市科技局项目(kq2004082)。

摘　　要：目的探讨17α-羟化酶/17,20碳链裂解酶缺陷症(17α-hydroxylase/17,20-lyase deficiency, 17OHD)合并糖尿病的临床特征及基因诊断。方法回顾性分析1例17OHD合并糖尿病患者的临床资料,抽提其外周血DNA,采用Sanger测序法和多重连接探针扩增法检测CYP17A1基因序列,应用Next-Seq 500测序仪测序,测序结果与HGMD等基因数据库比对CYP17A1基因突变情况。结果该例患者主要临床表现为高血糖、低血钾、原发性闭经、性发育不成熟、高孕酮、高促性腺激素性性腺功能低下、肾上腺皮质功能不全、促肾上腺皮质激素正常、双侧肾上腺增生。基因检测结果显示c.1117C>A(p.His373Asn)纯合突变,诊断为完全型17OHD。因患者无生育需求,未给予性激素治疗;患者拒绝糖皮质激素治疗;根据血糖变化逐渐停用胰岛素后使用格列齐特降低血糖,氯化钾缓释片补钾治疗。结论该例患者17OHD由CYP17A1基因His373Asn纯合突变所致,低血钾合并第二性征发育不良的糖尿病患者应注意行基因检测鉴别17OHD。Objective To analyze the clinical characteristics and genetic diagnosis of 17α-hydroxylase/17,20-lyase deficiency(17 OHD) complicated with diabetes mellitus. Methods The clinical data of a patient were retrospectively analyzed. DNA was extracted from the peripheral venous blood. CYP17 A1 genetic testing was performed by Sanger sequencing and multiplex ligation-dependent probe amplification. Sequencing was carried out on Next-Seq 500. CYP17 A1 gene mutation was compared between the aboved sequencing results and HGMD database. Results The main clinical manifestations of this patient included hyperglycemia, hypokalemia, primary amenorrhea, sexual infantilism, elevated serum progesterone level, hypergonadotropic hypogonadism, adrenocortical insufficiency, normal plasma adrenocorticotropic hormone level and bilateral adrenal hyperplasia. Gene mutation screening revealed a homozygous c.1117 C>A(p.His373 Asn) mutation in CYP17 A1 gene, and the patient was diagnosed with complete 17 OHD. This patient refused sex hormonal therapy due to no fertility demand and also refused glucocorticosteroid treatment. According to the changes in blood glucose levels, she was tapered off insulin and switched to gliclazide for glycemic control. And potassium chloride sustained-release tablets were used for potassium supplementation. Conclusions 17 OHD in this patient is caused by a homozygous mutation of His373 Asn in CYP17 A1 gene. For diabetic patients with hypokalemia and gonadal dysplasia, genetic testing is beneficial for differentiating 17 OHD.

关 键 词：17Α-羟化酶/17 20碳链裂解酶缺陷症 糖尿病 CYP17A1基因 基因检测 

分 类 号：R587.1[医药卫生—内分泌] R586[医药卫生—内科学]