雄激素受体不敏感综合征合并绒癌及人绒毛膜促性腺激素相关甲亢1例并文献复习  

Androgen insensitivity syndrome combined with choriocarcinoma and human chorionic gonadotropin-induced hyperthyroidism:A case and literature review

作　　者：谢新荣[1] 甘精华[1] 覃睿[1] 钟慕贤 Xie Xinrong;Gan Jinghua;Qin Rui;Zhong Muxian(Department of Endocrinology and Metabolism,Minzu Hospital of Guangxi Zhuang Autonomous Region,Nanning 530001,China)

机构地区：[1]广西壮族自治区民族医院内分泌代谢科,广西南宁530001

出　　处：《临床荟萃》2023年第7期628-632,共5页Clinical Focus

摘　　要：目的分析雄激素不敏感综合征(AIS)的诊断及治疗特点。方法回顾性分析广西壮族自治区民族医院2020年收治的1例AIS合并绒癌及人绒毛膜促性腺激素(HCG)相关甲亢患者的临床资料,对疾病的病因诊断及治疗进行总结。结果该患者外观均呈女性型,染色体核型为46,XY,患者睾酮水平高于正常男性,并合并有绒毛膜细胞癌及HCG相关甲亢,予手术切除性腺及肿瘤。结论对原发性闭经社会性别为女性,血睾酮增高的患者,尽早期做染色体检查,一旦发现染色体异常行相关的基因检测,做到早诊断、早治疗,避免性腺肿瘤的发生。Objective To analyze the diagnostic and therapeutic characteristics of androgen insensitivity syndrome(AIS).Methods Clinical data of a patient treated in the Minzu Hospital of Guangxi Zhuang Autonomous Region in 2020,who was diagnosed as AIS combined with choriocarcinoma and human chorionic gonadotropin(HCG)-induced hyperthyroidism were retrospectively analyzed.The diagnostic and therapeutic process were summarized.Results The patient was characterized by a female phenotype and 46,XY karyotype,who had higher testosterone levels than normal men.The patient was combined with choriocarcinoma and HCG-induced hyperthyroidism,and managed by the surgical resection of the gonad and primary tumor.Conclusion Chromosomal analysis should be provided to female gender patients with primary amenorrhea and high testosterone levels.Genetic testing is necessary once disease-associated genes are detectable,thus providing early diagnosis and early treatment,and preventing gonad tumours.

关 键 词：性腺发育不全 46 XY 完全型雄激素不敏感 HCG相关甲亢 

分 类 号：R588[医药卫生—内分泌]