女性表型46,XY性发育障碍的临床、病理特征及遗传学检测

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.206TC(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.206TC(p.V69A)为新发现的突变。

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

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 Gynaecolo-gy 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. 25462547 insA(p. N849K,fsX32)and a novel SRY mutation c. 206T>C (p. V69A) were identified in case 1 and case 2,respectively. Histopatho-logical 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.