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目的探讨46,XY性反转的发病机制。方法分析6例46,XY性反转患者的临床表现和体征并结合文献复习。结果 6例患者的临床表现和体征差异较大,细胞遗传学检查和性腺组织病理学检查结果也不一致。结论在46,XY性反转的发病原因中,虽然SRY基因(Sex-determining region Y)的异常是主因之一,但同时还有其它众多性别决定基因参与作用。提示我们,今后对该病应加强对性腺分化发育的分子机制、信号通路及调控进行分子遗传学研究,寻找产前诊断的分子遗传学标志,预防此类患儿的出生。
Objective To investigate the pathogenesis of 46, XY reversal. Methods Six cases of 46 cases with XY reversal were analyzed and their clinical manifestations and signs were reviewed and reviewed. Results The clinical manifestations and signs of 6 patients were quite different. The results of cytogenetics and gonad histopathological examination were also inconsistent. Conclusions At 46, although the abnormality of SRY gene is one of the main causes of XY reversal, many other sex-determining genes are also involved. Prompted us in the future the disease should strengthen the development of molecular mechanisms of gonadal differentiation, signaling and regulation of molecular genetics research, looking for prenatal diagnosis of molecular genetics markers to prevent the birth of such children.