女性表型46,XY性发育障碍的临床、病理特征及遗传学检测  

The clinical features and genetic testing of 3 female 46,XY DSD cases

作　　者：吴维青[1] 谢建生[1] 张丽[2] 张雁瑞[3] 覃春容[4] 李素丽[1] 陈武斌[1] 周庆华[5] Wu Weiqing XieJiansheng Zhang Li et al(Medical Heredity Research Center Department of Gynecology, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518032)

机构地区：[1]南方医科大学附属深圳市妇幼保健院医学遗传中心,深圳518032 [2]南方医科大学附属深圳市妇幼保健院妇科,深圳518032 [3]南方医科大学附属深圳市妇幼保健院病理科,深圳518032 [4]南方医科大学附属深圳市妇幼保健院生殖科,深圳518032 [5]暨南大学附属第一医院生物医学转化研究院,广州510632

出　　处：《现代妇产科进展》2017年第9期674-677,681,共5页Progress in Obstetrics and Gynecology

基　　金：深圳市科技计划项目(No:JCYJ20150402090413001);国家自然青年基金项目(No:81601299)

摘　　要：目的:总结女性表型的46,XY性发育障碍患者的临床及病理学特点,对其进行鉴别诊断及遗传学检测,为类似病例的诊断和鉴别诊断提供借鉴资料。方法:回顾分析2010年至2015年在深圳市妇幼保健院行妇科手术的3例46,XY性发育障碍患者的临床资料。将切除的性腺组织进行病理学诊断;提取患者及家属基因组DNA,应用Sanger测序、二代测序方法、MLPA、染色体基因组芯片分析等方法进行遗传学检测以寻找致病基因变异。结果:1例患者为完全型雄激素不敏感综合征(CAIS),病理结果证实一侧隐睾见精原细胞瘤,其AR基因第7外显子检测到移码突变c.2546_2547 insA(p.N849K,fs X32),此突变为已报道导致CAIS的突变方式;1例患者临床诊断为单纯性腺发育不良,性腺病理结果为不成熟的卵巢组织,患者SRY基因的HMG区域检测到c.206T>C(p.V69A)突变,此突变未见报道;1例患者临床诊断为单纯性腺发育不良,病理结果为双侧性腺母细胞瘤伴无性细胞瘤,性发育相关基因未检测到明确的致病突变。结论:综合利用多种检测方法对女性表型46,XY性发育障碍患者进行致病基因检测,其中2例患者分别由AR基因、SRY基因突变引起,其中SRY基因c.206T>C(p.V69A)为新发现的突变。Objective：To report the clinical and pathological features of 3 female 46,XY disorders of sex development（DSD） cases,and detect their causative mutations.Methods：A total of 3 female DSD patients were enrolled from 2010 to 2015 by Department of Gynaecology of Shenzhen Maternity and Child Healthcare Hospital.Clinical,histopathological,and genetic testing data of the 3 DSD cases were collected and analyzed.Results：Case 1 was diagnosed as complete androgen insensitivity syndrome;case 2 and 3 were diagnosed as 46,XY pure gonadal dysgenesis.A known AR gene mutation c.2546_2547 insA（p.N849 K,fs X32） and a novel SRY mutation c.206T〉C（p.V69A） were identified in case 1 and case 2,respectively.Histopathological examination results showed seminoma and onadoblastoma in both case 1 and case 3.Conclusions：We reported clinical and pathological features of 3 different female 46,XY DSD patients,identified one AR gene mutation and one novel SRY gene mutation.

关 键 词：性发育障碍 雄激素不敏感综合征 单纯性腺发育不良 雄激素受体基因 SRY基因 生殖细胞肿瘤 

分 类 号：R737.33[医药卫生—肿瘤]