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dc.contributor.author
Sciurano, Roberta Beatriz
dc.contributor.author
Rahn, Irene Monica
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González Arias, B.
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Rey Valzacchi, G.
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Benavente, R.
dc.contributor.author
Solari, Alberto Juan
dc.date.available
2019-10-22T19:44:02Z
dc.date.issued
2019-03
dc.identifier.citation
Sciurano, Roberta Beatriz; Rahn, Irene Monica; González Arias, B.; Rey Valzacchi, G.; Benavente, R.; et al.; Selective advantage of euploid spermatocytes i in an azoospermic 47,XYY man with gonadal mosaicism; Oxford University Press; Human Reproduction; 34; 3; 3-2019; 568-573
dc.identifier.issn
0268-1161
dc.identifier.uri
http://hdl.handle.net/11336/86980
dc.description.abstract
Although most XYY men have normal sperm counts and are fertile (supposedly due to the loss of the extra Y before meiosis), there is a minority who are infertile. In these cases, the XYY spermatocytes are able to enter meiosis and form different synaptic configurations. With regard to mosaics, there is scarce well-defined information on the presence of the second Y and its meiotic behaviour. In this study, the chromosome constitution and the synaptic behaviour of pachytene spermatocytes from an azoospermic man with testicular hypotrophy and non-mosaic 47,XYY karyotype were analysed. Furthermore, we determined the chromosome constitution of the somatic Sertoli cells. Five karyotypically normal men with obstructive azoospermia, but having complete spermatogenesis, were included as controls. Immuno-FISH using specific protein markers of synapsis and recombination (SYCP3, SYCP1, BRCA1, MLH1, CREST) and a specific Yq12 DNA probe were used. In addition, we used the newly developed Super-Resolution Structured Illumination Microscopy (SR-SIM) to clearly define the synaptic configurations. FISH analysis was also performed on Sertoli cells. The histopathological analysis showed variable degrees of spermatogenesis development in the testicular tissue of the propositus. Immuno-FISH analysis showed that most of the primary spermatocytes were euploid 46, XY. The use of SR-SIM confirmed the existence of this euploidy. Only a few pachytene spermatocytes showed an aneuploid X + YY constitution. Sertoli cells showed two different populations with one or two Y chromosomes, in similar proportions. Thus an abnormal niche of sex-trisomic Sertoli cells should be also considered when searching for the origin of spermatogenesis failure in XYY men.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Oxford University Press
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
HUMAN INFERTILITY
dc.subject
IMMUNO-FISH
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PACHYTENE SPERMATOCYTES
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STRUCTURED ILLUMINATION MICROSCOPY
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XYY SYNDROME
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Selective advantage of euploid spermatocytes i in an azoospermic 47,XYY man with gonadal mosaicism
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-10-15T19:39:32Z
dc.identifier.eissn
1460-2350
dc.journal.volume
34
dc.journal.number
3
dc.journal.pagination
568-573
dc.journal.pais
Reino Unido
dc.journal.ciudad
Oxford
dc.description.fil
Fil: Sciurano, Roberta Beatriz. Instituto Universitario del Hospital Italiano de Buenos Aires; Argentina. Universidad de Buenos Aires; Argentina. Universität Würzburg; Alemania. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Rahn, Irene Monica. Universidad de Buenos Aires; Argentina. Instituto Universitario del Hospital Italiano de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
dc.description.fil
Fil: González Arias, B.. Universidad de Buenos Aires. Facultad de Medicina; Argentina
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Fil: Rey Valzacchi, G.. Hospital Italiano; Argentina
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Fil: Benavente, R.. Universität Würzburg; Alemania
dc.description.fil
Fil: Solari, Alberto Juan. Universidad de Buenos Aires; Argentina. Hospital Italiano; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title
Human Reproduction
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1093/humrep/dey387
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/humrep/article-abstract/34/3/568/5267858
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