【摘要】 目的 探讨严重少精子症和无精子症患者染色体核型异常、睾丸体积与Y染色体微缺失之间的关系。方法 应用细胞遗传学和多重聚合酶链反应技术,对183例特发性无精子症及严重少精子症患者的染色体核型以及AZF区域微缺失进行分析,并应用睾丸模型测量患者的双侧睾丸体积。结果 183例不育患者中检测出染色体核型异常患者17例,异常率为9.3%。其中105例无精子症和78例严重少精子症患者分别检测出Y染色体微缺失患者12例和5例,分别占1 1.4%和6.4%。53例染色体核型异常患者检测出Y染色体微缺失3例,2例患者核型为46,XY,Y≤21者,其对应的缺失类型为AZFb和AZFc,另1例核型为46,XYY,其对应的缺失类型为AZFb。严重少精子症和无精子症患者Y染色体微缺失患者的睾丸体积与未发生缺失的睾丸体积相比,差异无统计学意义(P<0.05)。结论 染色体异常和无精子基因微缺失均是导致无精子症、少精子症的主要因素,AZF缺失未影响到睾丸体积改变。对无精子症及严重少精子症患者应进行Y染色体微缺失检测,以便明确不育患者的真正病因,从而避免无效或不必要的治疗。更多还原

【Abstract】 Objective To explore the relationship between abnormal chromosome karyotype,Y chromosome microdeletion and testicular volumes.Methods Chromosome karyotype and AZF microdeletions of 183 patients with severe oligozoospermia and azoospermia were detected by multiplex polymerase chain reaction and chromosome karyotypes staining,and bilateral testicular volumes of the testicular model were measured.Results Seventeen cases with abnormal chromosome karyotype were detected in 183 infertile patients,and the abnormal rate was 9.3%.Twelve cases with Y chromosome microdeletion were detected in azoospermia patients,and 5 cases in oligozoospermia patients,and microdeletion rate was 11.4%and 6.4%respectively.Three cases with Y chromosome microdeletions were detected in 53cases with abnormal chromosome karyotypes.Two patients with 46,XY,Y≤21 was identified as the deletion type of AZFb and AZFc.and the other case with 46,XYY was identified as the deletion type AZFb.There was no relationship between Y chromosome microdeletions and the testicular volumes.Conclusion Abnormal chromosomal and gene microdeletion were all leading causes of azoospermia and severe oligospermia.There is no correlation between abnormal karyotype and Y chromosome microdeletions.The screening of Y chromosome microdeletion should be performed in the infertile men with in oligozoospermia or azoospermia patients,and avoiding ineffective or unnecessary treatment.更多还原