48,XXYY综合征患者的荧光原位杂交检测及睾丸组织超微结构研究

Fluorescence in situ hybridization detection of peripheral lymphocyte and ultrastructural study of the testicular tissue in a 48,XXYY syndro me patient

目的 探讨 48,XXYY综合征男性不育的发病机理。方法 采用双色荧光原位杂交技术 ,对患者睾丸活检组织做病理切片及电镜超薄切片观察。结果 睾丸组织病理学检测结果显示睾丸组织破坏严重 ,发育极差 ,仅存少数曲细精管管腔 ,管腔内未见各级生精细胞及精子 ;超微结构观察间质内血管壁明显增厚 ,基膜及血管腔内大量胶原纤维增生 ;大部分曲细精管界膜、基膜被极度纤维化增生所替代。结论 48,XXYY综合征患者睾丸组织结构发生严重的纤维化增生 ,导致非特异性屏障增厚和血睾屏障严重破坏 ,促使其生精细胞形成过程发生严重程度的障碍和病理学变化 。

Objective: To investigate the pathogenesis of male sterility in 48, XXYY syndrome patient. Methods: The peripheral lymphocyte was detected by dual-color fluorescence in situ hybridization. The bioptic testicular tissues were pathologically sectioned and ultra-thin sections were examined by electron-microscopy. Results: The pathological findings revealed extremely severe dysgenesis of the badly damaged testicular tissue. Only a few convoluted seminiferous tubules were found, in which no spermatogenic cell or sperm of any range could be viewed. The ultrastructural observations showed the thickened interstitial vascular walls of the testicular tissue and severe hyperplasia of the collagen fibers in the basilemma and lumens of the blood vessels. Conclusion: The structure of the testicle in the 48,XXYY syndrome patient has severe fibrous hyperplasia, leading to the non-specific thickening of the barrier and serious damage to the blood-testis barrier, which in turn produce significant disturbance and pathological changes in the process of the spermatogenic cell formation. The whole interrelated loops account mainly for the male sterility.