女性表型46,XY性发育障碍的临床、病理特征及遗传学检测

发布时间：2018-06-10 08:21

本文选题：性发育障碍 + 雄激素不敏感综合征　；参考：《现代妇产科进展》2017年09期

【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.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。
[Abstract]:Objective: To summarize the clinical and pathological features of the 46 and XY sexual dysplasia of women, and to make a differential diagnosis and genetic test for the diagnosis and differential diagnosis of similar cases. Methods: To review and analyze 3 cases of 46, XY sexual dysplasia in women and children health care hospital of Shenzhen from 2010 to 2015. Clinical data. The pathological diagnosis of the resected gonadal tissue was carried out. The genomic DNA of the patients and their families was extracted, Sanger sequencing, two generation sequencing methods, MLPA, chromosome genome chip analysis and other methods were used to detect the genetic variation. Results: 1 patients were complete androgen insensitive syndrome (CAIS), and the pathological results were found. It was confirmed that one side of the cryptorchidism was seen with spermatogonial tumor. The AR gene seventh exon detected the shift mutation c.2546_2547 insA (p.N849K, FS X32), which was reported to lead to the mutation of CAIS, and 1 patients were diagnosed as simple gonadoplasia, and the gonadal pathological results were unripe ovarian tissue, and the HMG region of SRY gene was detected in the patient's c.206. The mutation of TC (p.V69A) was not reported. 1 patients were clinically diagnosed as simple gonadoplasia, pathological results were bilateral gonadoblastoma with asexual tumor, and sexual development related genes did not detect clear pathogenic mutations. Conclusion: a variety of detection methods are used to carry out the pathogeny genes of women with the phenotype of 46 and XY developmental disorders. 2 of the patients were detected by AR gene and SRY gene mutation, of which SRY gene c.206TC (p.V69A) was a new mutation.
【作者单位】：南方医科大学附属深圳市妇幼保健院医学遗传中心;南方医科大学附属深圳市妇幼保健院妇科;南方医科大学附属深圳市妇幼保健院病理科;南方医科大学附属深圳市妇幼保健院生殖科;暨南大学附属第一医院生物医学转化研究院;
【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)
【分类号】：R711.1

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