發(fā)布時(shí)間：2018-06-10 08:21

  本文選題：性發(fā)育障礙 + 雄激素不敏感綜合征��； 參考：《現(xiàn)代婦產(chǎn)科進(jìn)展》2017年09期

【摘要】：目的:總結(jié)女性表型的46,XY性發(fā)育障礙患者的臨床及病理學(xué)特點(diǎn),對(duì)其進(jìn)行鑒別診斷及遺傳學(xué)檢測(cè),為類似病例的診斷和鑒別診斷提供借鑒資料。方法:回顧分析2010年至2015年在深圳市婦幼保健院行婦科手術(shù)的3例46,XY性發(fā)育障礙患者的臨床資料。將切除的性腺組織進(jìn)行病理學(xué)診斷;提取患者及家屬基因組DNA,應(yīng)用Sanger測(cè)序、二代測(cè)序方法、MLPA、染色體基因組芯片分析等方法進(jìn)行遺傳學(xué)檢測(cè)以尋找致病基因變異。結(jié)果:1例患者為完全型雄激素不敏感綜合征(CAIS),病理結(jié)果證實(shí)一側(cè)隱睪見(jiàn)精原細(xì)胞瘤,其AR基因第7外顯子檢測(cè)到移碼突變c.2546_2547 insA(p.N849K,fs X32),此突變?yōu)橐褕?bào)道導(dǎo)致CAIS的突變方式;1例患者臨床診斷為單純性腺發(fā)育不良,性腺病理結(jié)果為不成熟的卵巢組織,患者SRY基因的HMG區(qū)域檢測(cè)到c.206TC(p.V69A)突變,此突變未見(jiàn)報(bào)道;1例患者臨床診斷為單純性腺發(fā)育不良,病理結(jié)果為雙側(cè)性腺母細(xì)胞瘤伴無(wú)性細(xì)胞瘤,性發(fā)育相關(guān)基因未檢測(cè)到明確的致病突變。結(jié)論:綜合利用多種檢測(cè)方法對(duì)女性表型46,XY性發(fā)育障礙患者進(jìn)行致病基因檢測(cè),其中2例患者分別由AR基因、SRY基因突變引起,其中SRY基因c.206TC(p.V69A)為新發(fā)現(xiàn)的突變。
[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.
【作者單位】： 南方醫(yī)科大學(xué)附屬深圳市婦幼保健院醫(yī)學(xué)遺傳中心;南方醫(yī)科大學(xué)附屬深圳市婦幼保健院婦科;南方醫(yī)科大學(xué)附屬深圳市婦幼保健院病理科;南方醫(yī)科大學(xué)附屬深圳市婦幼保健院生殖科;暨南大學(xué)附屬第一醫(yī)院生物醫(yī)學(xué)轉(zhuǎn)化研究院;
【基金】：深圳市科技計(jì)劃項(xiàng)目(No:JCYJ20150402090413001) 國(guó)家自然青年基金項(xiàng)目(No:81601299)
【分類號(hào)】：R711.1

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本文編號(hào)：2002569