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AZF midrodeletions screening in infertile men of the Portuguese population

2014-10Conference object Open access
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dc.contributor.authorPereira, Iris
dc.contributor.authorSilva, Júlia
dc.contributor.authorCorreia, Sónia
dc.contributor.authorPinto, Maria Graça
dc.contributor.authorRangel, Ricardo
dc.contributor.authorAguiar, Ana
dc.contributor.authorNunes, Joaquim
dc.contributor.authorCalhaz Jorge, Carlos
dc.contributor.authorGonçalves, João
dc.date.accessioned2015-01-29T12:15:38Z
dc.date.available2015-01-29T12:15:38Z
dc.date.issued2014-10
dc.description.abstractAnalysis of genetic conditions associated with male infertility is, at present days, restricted to chromosome analysis, AZF Y-chromosome microdeletions screening, and to patients with hypogonadotrophic hypogonadism or with congenital absence of the vas deferens. Among different populations AZF microdeletions can explain 10-15% of the infertile phenotype of azoospermic men and 2-5% of oligozoospermic men. Here we present the results of AZF deletions screening performed in a selected group of infertile Portuguese men with idiopathic non-obstructive azoospermia or with oligozoospermia (men with other causes of male infertility, endocrinological alterations, varicocele, criptorquidism, professional risk factors, autosomal chromosomal abnormalities, were excluded for this study). Analysis was performed by Multiplex-PCR using specific STS for the three AZF regions. Microdeletion breakpoints were confirmed using a second multiplex-PCR. We analysed 865 infertile men (270 azospermic and 595 oligozoospermic with [spermatozoa]<5x106/mL) and 300 DNA samples obtained from fertile men of the Portuguese population. While AZF microdeletions were found in 27 azoospermic (10.0%) and in 22 oligozoospermic men (3.7%), in fertile men no microdeletions were detected.Our results demonstrate that AZF microdeletions are frequent among males with the infertile phenotype described above. The regions absent have prognostic value for the clinical decision and patients treatment. Genetic counselling is recommended to all patients with AZFdel. AZFcdel will be obligatorily transmitted to all male offspring by ICSI, which will seriously impair their fertility.por
dc.identifier.citationProceedings of the 8th Congress of the European Academy of Andrology, 2, 2014, p. 53por
dc.identifier.urihttp://hdl.handle.net/10400.18/2703
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherWiley Blackwellpor
dc.subjectDoenças Genéticaspor
dc.subjectInfertilidade Masculinapor
dc.subjectInfertilidadepor
dc.subjectAZFpor
dc.subjectMicrodeleçõespor
dc.subjectAZFapor
dc.subjectAZFbpor
dc.subjectAZFcpor
dc.titleAZF midrodeletions screening in infertile men of the Portuguese populationpor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBarcelona, Espanhapor
oaire.citation.endPage53por
oaire.citation.startPage53por
oaire.citation.title8th Congress of the European Academy of Andrology,15-17 October 2014por
oaire.citation.volume2por
rcaap.rightsopenAccesspor
rcaap.typeconferenceObjectpor

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