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.
作者
吴维青
谢建生
张丽
张雁瑞
覃春容
李素丽
陈武斌
周庆华
Wu Weiqing XieJiansheng Zhang Li et al(Medical Heredity Research Center Department of Gynecology, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518032)
出处
《现代妇产科进展》
CSCD
北大核心
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)
