CAJ | 학술논문

　　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11.4%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。
　　목적탐토엄중소정자증화무정자증환자염색체핵형이상、고환체적여Y염색체미결실지간적관계。방법응용세포유전학화다중취합매련반응기술，대183례특발성무정자증급엄중소정자증환자적염색체핵형이급AZF구역미결실진행분석，병응용고환모형측량환자적쌍측고환체적。결과183례불육환자중검측출염색체핵형이상환자17례，이상솔위9.3%。기중105례무정자증화78례엄중소정자증환자분별검측출Y염색체미결실환자12례화5례，분별점11.4%화6.4%。53례염색체핵형이상환자검측출Y염색체미결실3례，2례환자핵형위46, XY，Y≤21자，기대응적결실류형위AZFb화AZFc，령1례핵형위46, XYY，기대응적결실류형위AZFb。엄중소정자증화무정자증환자Y염색체미결실환자적고환체적여미발생결실적고환체적상비，차이무통계학의의（P＜0.05）。결론염색체이상화무정자기인미결실균시도치무정자증、소정자증적주요인소，AZF결실미영향도고환체적개변。대무정자증급엄중소정자증환자응진행Y염색체미결실검측，이편명학불육환자적진정병인，종이피면무효혹불필요적치료。
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 53 cases 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.