严重少精子症和无精子症患者染色体核型与Y染色体微缺失检测的应用中国男科学杂志2022年第27卷第5期41严重少精子症和无精子症患者染色体核型与Y染色体微缺失检测的应用孙宝刚粱鲁南曹井贺房姣王雪楠牛焕付杨爱军山东省济宁医学院附属医院生殖医学中心（济宁273000）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。关键词无精子症;少精子症;染色体畸变doi:10.3969/j.issn.1018-0848.2022.05.011中图分类号R6101.2AnalysisofYchromosomalmicrodeletionsandchromosomekaryotypein183patientswithsevereoligozoospermiaandazoospermiaSunBaogang,LiangLunan,CaoJinghe,FangJiao,WangXuenan,NiuHuanfu,YangAijunAf?liatedHospitalofJiningMedicalCollege,Jining273000,Shangdong,ChinaAbstractObjectiveToexploretherelationshipbetweenabnormalchromosomekaryotype,Ychromosomemicrodeletionandtesticularvolumes.MethodsChromosomekaryotypeandAZFmicrodeletionsof183patientswithsevereoligozoospermiaandazoospermiaweredetectedbymultiplexpolymerasechainreactionandchromosomekaryotypesstaining,andbilateraltesticularvolumesofthetesticularmodelweremeasured.ResultsSeventeencaseswithabnormalchromosomekaryotypeweredetectedin183infertilepatients,andtheabnormalratewas9.3%.TwelvecaseswithYchromosomemicrodeletionweredetectedinazoospermiapatients,and5casesinoligozoospermiapatients,andmicrodeletionratewas11.4%and6.4%respectively.ThreecaseswithYchromosomemicrodeletionsweredetectedin53caseswithabnormalchromosomekaryotypes.Twopatientswith46,XY，Y≤21wasidenti?edasthedeletiontypeofAZFbandAZFc,andtheothercasewith46,XYYwasidenti?edasthedeletiontypeAZFb.TherewasnorelationshipbetweenYchromosomemicrodeletionsandthetesticularvolumes.ConclusionAbnormalchromosomalandgenemicrodeletionwereallleadingcausesofazoospermiaandsevereoligospermia.ThereisnocorrelationbetweenabnormalkaryotypeandYchromosomemicrodeletions.ThescreeningofYchromosomemicrodeletionshouldbeperformedintheinfertilemenwithinoligozoospermiaorazoospermiapatients,andavoidingineffectiveorunnecessarytreatment.Keywordsazoospermia;oligospermia;chromosomeAberrations中国男科学杂志2022年第27卷第5期41严重少精子症和无精子症患者染色体核型与Y染色体微缺失检测的应用孙宝刚粱鲁南曹井贺房姣王雪楠牛焕付杨爱军山东省济宁医学院附属医院生殖医学中心（济宁273000）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...