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.
作者
韩宾宾
郑瑞芝
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)
出处
《中华内科杂志》
CAS
CSCD
北大核心
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)。
