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.
Adult Chromosomes, Human, X