Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome

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1、维普资讯http://www.cqvip.comBlackwelIAsianJAndrol2007；9r6J815—820AJAPublishingDOI：10．111l／j．1745—7262．2007．00315．x’OriginalArticle‘RoutinescreeningforclassicalazoospermiafactordeletionsoftheYchromosomeinazoospermicpatientswithKlinefeltersyndromeJinHoChoe，JongWooKim，JoongShikLee，JuTaeSeoDepartmentofUr

2、ology,CheilGeneralHospital,KwandongUniversityCollegeofMedicine，Seoul100—380,KoreaAim：ToevaluatetheoccurrenceofclassicalazoospermiafactorrAZF)deletionsoftheYchromosomeasaroutineexaminationinazoospermicsubjectswithKlinefeltersyndrome(KS)．Methods：Bloodsampleswerecollectedfrom95azoospermicsunectswith

3、KS(9lsubiectshada47，XXYkaryotypeandfoursubjectshadamosaic47，XXY，46，XYkaryotypc)andacontrolgroupof93flenilemen．Thevaluesoftestosterone，folliclestimulatinghormone(FSH)andluteinizinghormone(LH)weremeasured．TodeterminethepresenceofYchromosomemicrodeletions，poly—illerasechainreaction(PCR)offivesequenc

4、e—taggedsiteprimers(sY84，sYl29，sY134，sY254，sY255)spanningtheA珏region．wasperformedonisolatedgenomicDNAResults：Ychromosomemicrodeletionswerenotfoundinanyofthe95azoospermicsubiectswithKS．Inaddition，usingsimilarconditionsofPCR．nomicrodeletionswereobservedinthe93fertilemenevaluated．ThelevelofFSHinKSsu

5、bjectswashigherthanthatinfertilemen(38．2±10．3mlUImLvs．5．4±2．9mlU／mL．P<0．oo1)andthetestosteronelevelwaslowerthanthatinthecontrolgroup(1．7-1-0．3ng／mLvs．4．3-1-1．3ng／mL，P<0．OO1)．c：onclusion：0urdataandreviewofthepublishedliteraturesuggestthatclassicalAzFdeletionsmightnotplayaroleinpredisposinggeneticb

6、ackgroundforthepheno—tvpeofazoospermicKSsubjectswitha47，XXYkaryotype．Inaddition，routinescreeningfortheclassicalAdeletionsmightnotberequ~edforthesesubjects．FurtherstudiesincludingpartialAZFcdeletions(e．g．gr／gror2)arenecessarytoestablishothermechanismunderlyingseverespermatogenesisimpairmentinKS．rA

7、sianJAndrol2DD7Nov；9815--820)Keywords：Ychromosome；chromosomedeletion；Klinefeltersyndrome；azoospermia1Introductionproximately15％ofthepopulationofreproductiveage；amalefactorcanbeidentifiedinapproximatelyhalfofInfertility