17α-羟化酶/17,20碳链裂解酶缺陷症合并睾丸肿瘤临床及CYP17A1基因突变分析  

Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17,20-lyase deficiency and testicular tumor

作　　者：韩宾宾 郑瑞芝[1,2] 解一丹 陈奕錡 牛吉攀 张云 Han Binbin;Zheng Ruizhi;Xie Yidan;Chen Yiqi;Niu Jipan;Zhang Yun(Department of Endocrinology,Henan Provincial People′s Hospital,Zhengzhou 450003,China;Department of Endocrinology,People′s Hospital of Henan University,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院内分泌科,郑州450003 [2]河南大学人民医院内分泌科,郑州450003

出　　处：《中华内科杂志》2021年第9期827-830,共4页Chinese Journal of Internal Medicine

基　　金：河南省科技厅基础与前沿技术研究项目(142300410071)。

摘　　要：17α-羟化酶/17,20碳链裂解酶缺陷症(17-OHD)是一种罕见疾病。回顾性分析2018年3月至2019年2月在河南省人民医院收治的2例患者的临床资料及进行突变基因分析。结果显示,2例46,XY的临床表型为女性的17-OHD患者,腹腔镜性腺探查见腹股沟、髂窝处呈灰黄、灰红色的未发育睾丸,给予切除行病理均示癌变。CYP17A1基因测序显示,分别为c.1247G>A/c.1427T>C、c.985_987delTACinsAA/c.1306G>A复合杂合突变。提示我们对于高血压、低血钾、肾上腺腺瘤样增生伴46,XY性腺发育异常的患者,应考虑到17-OHD可能,以期早期诊治,避免误诊误治及发育不良睾丸恶变。The 17α-hydroxylase/17,20-lyase deficiency(17-OHD)is a rare disease.The clinical characteristics and gene mutation of 2 late-diagnosed 17-OHD patients with testicular tumor admitted to our hospital from March 2018 to February 2019 were analyzed retrospectively.The two 17-OHD patients were female(46,XY).Laparoscopic abdominal exploration found undeveloped testicles in grey-yellow or grey-red in the groin and iliac fossa.The testicles were removed and showed malignancy in pathology study.Sequencing of the CYP17A1 gene identified c.1247G>A/c.1427T>C and c.985_987delTACinsAA/c.1306G>A complex heterozygous mutations.Taking together,the possibility of 17-OHD should be considered in patients with hypertension,hypokalemia,adrenal adenomatoid hyperplasia together with 46,XY gonadal dysplasia,so as to make early diagnosis and treatment,and avoid dysplastic testicular turning to malignancy.

关 键 词：性发育 睾丸肿瘤 17α-羟化酶/17 20碳链裂解酶缺陷 CYP17A1 

分 类 号：R737.21[医药卫生—肿瘤] R586[医药卫生—临床医学]