The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorNISHI, Mirian Yumie
dc.contributor.authorCOSTA, Elaine Maria Frade
dc.contributor.authorOLIVEIRA, Suely Beirao
dc.contributor.authorMENDONCA, Berenice Bilharinho
dc.contributor.authorDOMENICE, Sorahia
dc.date.accessioned2017-11-27T16:23:25Z
dc.date.available2017-11-27T16:23:25Z
dc.date.issued2011
dc.description.abstractBackground: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. Aims: It was the aim of this study to screen for allelic variation in SRY in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45, X/46, X, der(Y) karyotype. Patients: Twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45, X/46, X, der(Y) karyotypes were selected. Methods: Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The SRY coding region was PCR amplified and sequenced. Results: We identified only 1 polymorphism (c.561C -> T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue. Conclusion: Our results indicate that mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45, X/46, XY karyotype and variants seems very unlikely.
dc.description.indexMEDLINE
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico - CNPq [301339/2008-9]
dc.identifier.citationHORMONE RESEARCH IN PAEDIATRICS, v.75, n.1, p.26-31, 2011
dc.identifier.doi10.1159/000316536
dc.identifier.issn1663-2818
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/22582
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofHormone Research in Paediatrics
dc.rightsrestrictedAccess
dc.rights.holderCopyright KARGER
dc.subjectMixed gonadal dysgenesis
dc.subjectSRY mutation
dc.subjectTurner syndrome
dc.subjectY chromosome material
dc.subject.othery-chromosome sequences
dc.subject.othergroup-box region
dc.subject.otherturner-syndrome
dc.subject.othergene
dc.subject.othermosaicism
dc.subject.otherfemale
dc.subject.otherpcr
dc.subject.otherdna
dc.subject.otherkaryotype
dc.subject.otherreversal
dc.subject.wosEndocrinology & Metabolism
dc.subject.wosPediatrics
dc.titleThe Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus6
hcfmusp.contributor.author-fmusphcMIRIAN YUMIE NISHI
hcfmusp.contributor.author-fmusphcELAINE MARIA FRADE COSTA
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.contributor.author-fmusphcSORAHIA DOMENICE
hcfmusp.description.beginpage26
hcfmusp.description.endpage31
hcfmusp.description.issue1
hcfmusp.description.volume75
hcfmusp.origemWOS
hcfmusp.origem.pubmed20699606
hcfmusp.origem.scopus2-s2.0-79151478925
hcfmusp.origem.wosWOS:000286427200006
hcfmusp.publisher.cityBASEL
hcfmusp.publisher.countrySWITZERLAND
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