两例罕见Y染色体异常病例报道

Two rare cases of original sterility report

目的通过对两例罕见原发性不孕症病例的报道,以探讨Y染色体异常对男性生殖功能的影响。方法 1.对两患者进行外周血淋巴细胞常规培养,制备染色体G显带标本,镜下核型分析。检测两患者的性激素水平。结果 1.患者一的核型为:mos47,XYY/46,XY(30),经过C显带检查确诊。2.患者二的核型为:46,XY,Yqh-(30)。3.两患者性激素水平均在正常范围内。结论 1.Y染色体异常会导致精子生成异常,从而影响男性生殖功能,导致不孕,但并不影响男性性激素水平。2.通过染色体检查可以对不孕的症患者进行诊断。

Objective： The study reported two rare cases of original sterility, and investigated the influence of Y chromosome abnormality on male reproductive ability. Methods： Two male patients were performed on peripheral blood lymphocytes culturing to make chromosome G- banding and analyze the karyotype by standard techniques. To examine their sex hormone levels. Results： 1. G - banding analysis showed one patient had a karyotype of mos 47 ,XYY/46 ,XY（30）, and the result was confirmed by C - banding analyze. 2. G - banding analysis showed the other patient had a karyotype of 46, XY, Yqh - （30）. 3. The sex hormone level of both pagents was in normal range. Conclusion： Y chromosome abnormality may result in dyszoospermia, which leads to male＇s sterility, while it has no influence sterility on male sex hormone level. The examine of chromosome can help finding the causes of sterility