Klinefelter综合征Y染色体微缺失的检测第19卷第17期中国现代医学杂志Vol.19No.172022年9月ChinaJournalofModernMedicineSep.2022Klinefelter综合征（klinefeltersyndrome，KS），又称克兰恩费尔特综合征、先天性睾丸发育不良、XXY综合征、原发性小睾丸综合征等。KS是一种常见的因为性染色体数目异而引起多种表型异常的综合征，发病率在男性中约为0.1%。多数患者染色体核型为47，XXY，以男性第二性征及睾丸发育不良、严：1015-81012（2022）17-2690-03Klinefelter综合征Y染色体微缺失的检测朱春晖，梁季鸿，梁世坤，韦国强，梁兵，宋卫儒，张迅（广西医科大学第一附属医院男性科，广西南宁530021）摘要：目的观察Klinefelter综合征（Klinefeltersyndrome，KS）患者Y染色体无精症基因（azoospermiafac-tor，AZF）微缺失检测情况。方法对48例Klinefelter综合征患者及作为对照组的47例已婚已有生育的男性抽血测定血清卵泡刺激素（FSH）、黄体生成激素（LH）、睾酮浓度和染色体核型，进行生殖器体检并测量阴茎长度及睾丸容积。采用6个实验用序列标签位点（STS）（sY84、sY86、sY127、sY134、sY254和sY255）并以X／Y连锁锌指蛋白基因（ZFX／Y）为内对照进行多重PCR筛查Y染色---本文来源于网络，仅供参考，勿照抄，如有侵权请联系删除---体微缺失。结果48例均未测出AZF微缺失；对照组47例样本也均未检出AZF基因微缺失，KS患者FSH和LH浓度高于对照组，KS患者睾酮浓度低于对照组，KS患者阴茎长度及睾丸容积均小于对照组。结论Y染色体AZF缺失不是引起KS患者生精障碍的遗传因素，AZF缺失与KS之间可能存在不确定的关系。关键词：Klinefelter综合征；AZF微缺失；精子生成：R697.22文献标识码：BDetectionofYchromosomemicrodeletionsinazoospermicpatientswithKlinefelter′ssyndromeZHUChunhui,LIANG激hong,LIANGShikun,WEIGuoqiang,LIANGBing,SONGWeiru,ZHANGXun(DepartentofAndrology,theFirstAffiliatedHospitalofGuangxiMedicalUniversity,Nanning,Guangxi530021,P.R.China)Abstract:TostudytheoccurrenceofYchromosomeinazoospermicpatientswith(KS).BloodandsemensampleswerecollectedfromazoospermicpatientswithKS(n=48)andacontrolgroupofmenofprovenfertility(n=47).SemenanalysiswasdoneaccordingtoWorldHealthOrganization(WHO)guidelines.Bloodsampleswereprocessedforkaryotypingandmeasurementofplasmafolliclestimulatinghormone(FSH),luteinizinghormone(LH)andtestosteroneweremeasuredbyradioimmunoassay.Thetesticularvolumeandpenisweremeasured．TodeterminethepresenceofYchromosomemicrodeletions，polymerasechainreaction(PCR)of6sequencetaggedsites(Y84,sY86,sY127,sY134,sY254,sY255)---本文来源于网络，仅供参考，勿照抄，如有侵权请联系删除---spanningtheAZFregion．wasperformedonisolatedgenomicDNA.ThelevelofFSHandLHinKSsubjectswashigherthanthatinfertilemenandthetestosteronelevelinKSsubjectswaslowerthanthatinthecontrolgroup.ThetesticularvolumeandpenislengthinKSsubjectswerelowerthanthatinthecontrolgroup.47subiectswithKShada47XXYkaryotypeandonesubjectshada48XXXYkaryotype.Thefertilemenshada46XYkaryotype.Ychromosomemicrodeletionswerenotfoundinanyofthe48azoospermicsubiectswithKS．Inaddition，usingsimilarconditionsofPCR．Nomicrodeletionswereobservedinthe47fertilemenevaluated．0urdatasuggestthatclassicalAZFdeletionsmightnotplayaroleinpredispos－inggeneticbackgroundforspermatogenousdisturbanceofazoospermicKSsubject.Thereisauncertainrelationbe－tweenAZFandKS.Keywords:Klinefeltersyndrome;AZFmicrodeletions;spermatogenesis收稿日期：2022-01-10第19卷第17期中国现代医学杂志Vol.19No.172022年9月ChinaJournalofModernMedicineSep.2022Klinefelter综合征（klinefeltersyndrome，KS），又称克兰恩费尔特综合征、先天性睾丸发育不良、XXY综合征、原发性小睾丸综合...