课件：男性不育的病因学.ppt

* * Chaganti and German (1979) reported a family in which infertility due to azoospermia or oligospermia affected 3 men related through their mothers. Testicular tissue obtained from the 46,XY phenotypically male but azoospermic propositus exhibited normal zygotene and pachytene pairing but premature desynapsis, with a reduced chiasma frequency and degeneration of spermatocytes during the first meiotic division. They postulated that a gene for meiotic disturbance, spermatogenic arrest, and azoospermia was segregating in this family, inherited in either an X-linked recessive or sex-limited autosomal dominant fashion. Soderstrom and Suominen (1980) examined testicular biopsy specimens from 147 men with the clinical diagnosis of azoospermia or oligospermia. Meiotic arrest was found in 27 cases; closer scrutiny of 7 of the specimens showed that the pattern of meiotic arrest commonly varied in the same specimen, with coexisting areas of normal spermatogenesis and meiotic arrest. Because the timing of the arrest was consistently in the late pachytene stage, with condensation of chromatin along the synaptonemal complex, Soderstrom and Suominen (1980) concluded that there might be a genetic cause for the meiotic arrest. Chaganti et al. (1980) reported 2 nearly azoospermic sibs of a consanguineous marriage; meiotic cells from a testicular biopsy of the 46,XY phenotypically male proband exhibited asynapsis, defective synaptonemal complex formation, chiasma failure, and degeneration of prophase spermatocytes with asynapsis. The meiotic abnormalities and infertility in this family appeared to comprise an autosomal recessive trait. Cantu et al. (1981) studied three 46,XY phenotypically male, azoospermic brothers in a sibship of 13 from a consanguineous marriage and found a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. * USP26 is specifically expressed in testis tissue and is a potential infertility gene. In