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Article: Cystic fibrosis gene mutations and infertile men with primary testicular failure

TitleCystic fibrosis gene mutations and infertile men with primary testicular failure
Authors
KeywordsAzoospermia
CFTR mutations
Cystic fibrosis
Male infertility
Testicular failure
Issue Date2000
PublisherOxford University Press. The Journal's web site is located at http://humrep.oxfordjournals.org/
Citation
Human Reproduction, 2000, v. 15 n. 2, p. 436-439 How to Cite?
AbstractIt has been proposed that the gene responsible for cystic fibrosis, called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, may play an important role in the process of spermatogenesis. A group of azoospermic men with primary testicular failure underwent CFTR mutation analysis, including assessment of the intron 8 polythymidine tract (IVS8-T tract). An association was not found between CFTR mutations or the 5T variant of the IVS8-T tract and the primary testicular failure phenotype. This finding suggests that CFTR does not play a significant role in the aetiopathogenesis of primary spermatogenic dysfunction. Therefore, the abnormal testicular histological findings in some post-pubertal men with cystic fibrosis may be a result of nutritional deficiency or testicular obstruction rather than a primary defect in spermatogenesis. In addition, the decreased sperm count in oligozoospermic men with CFTR mutations may be secondary to partial reproductive tract obstruction and not abnormal spermatogenesis. Lastly, routine screening of men with primary testicular failure for CFTR gene mutations is not warranted.
Persistent Identifierhttp://hdl.handle.net/10722/44358
ISSN
2015 Impact Factor: 4.621
2015 SCImago Journal Rankings: 2.271
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, Ven_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorZini, Aen_HK
dc.contributor.authorMartin, Sen_HK
dc.contributor.authorLongley, TBen_HK
dc.contributor.authorJarvi, KAen_HK
dc.date.accessioned2007-09-12T03:52:03Z-
dc.date.available2007-09-12T03:52:03Z-
dc.date.issued2000en_HK
dc.identifier.citationHuman Reproduction, 2000, v. 15 n. 2, p. 436-439en_HK
dc.identifier.issn0268-1161en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44358-
dc.description.abstractIt has been proposed that the gene responsible for cystic fibrosis, called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, may play an important role in the process of spermatogenesis. A group of azoospermic men with primary testicular failure underwent CFTR mutation analysis, including assessment of the intron 8 polythymidine tract (IVS8-T tract). An association was not found between CFTR mutations or the 5T variant of the IVS8-T tract and the primary testicular failure phenotype. This finding suggests that CFTR does not play a significant role in the aetiopathogenesis of primary spermatogenic dysfunction. Therefore, the abnormal testicular histological findings in some post-pubertal men with cystic fibrosis may be a result of nutritional deficiency or testicular obstruction rather than a primary defect in spermatogenesis. In addition, the decreased sperm count in oligozoospermic men with CFTR mutations may be secondary to partial reproductive tract obstruction and not abnormal spermatogenesis. Lastly, routine screening of men with primary testicular failure for CFTR gene mutations is not warranted.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://humrep.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Reproductionen_HK
dc.subjectAzoospermiaen_HK
dc.subjectCFTR mutationsen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectMale infertilityen_HK
dc.subjectTesticular failureen_HK
dc.subject.meshOligospermia - geneticsen_HK
dc.subject.meshCftr mutationsen_HK
dc.subject.meshCystic fibrosisen_HK
dc.subject.meshMale infertilityen_HK
dc.subject.meshTesticular failureen_HK
dc.titleCystic fibrosis gene mutations and infertile men with primary testicular failureen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0268-1161&volume=15&issue=2&spage=436&epage=439&date=2000&atitle=Cystic+fibrosis+gene+mutations+and+infertile+men+with+primary+testicular+failureen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1093/humrep/15.2.436-
dc.identifier.pmid10655318-
dc.identifier.scopuseid_2-s2.0-0033955597en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033955597&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume15en_HK
dc.identifier.issue2en_HK
dc.identifier.spage436en_HK
dc.identifier.epage439en_HK
dc.identifier.isiWOS:000085154200032-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridMak, V=7003466815en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridZini, A=7005212511en_HK
dc.identifier.scopusauthoridMartin, S=35611051800en_HK
dc.identifier.scopusauthoridLongley, TB=6603428591en_HK
dc.identifier.scopusauthoridJarvi, KA=23392788300en_HK

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