Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

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dc.contributor.authorBianco, Bianca Alves Vieira [UNIFESP]
dc.contributor.authorLipay, Monica Vannucci Nunes [UNIFESP]
dc.contributor.authorGuedes, Alexis Dourado [UNIFESP]
dc.contributor.authorVerreschi, Ieda Therezinha do Nascimento [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T13:51:42Z
dc.date.available2016-01-24T13:51:42Z
dc.date.issued2008-10-01
dc.description.abstractObjective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities.Design: To investigate the presence of Y-chromosome sequences in different tissue samples.Setting: Endocrinology outpatient clinic of a federal university in Brazil.Patient(s): Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes.Intervention(s): Peripheral blood, oral epithelial cells, and hair root samples were collected.Main Outcome Measure(s): the SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients.Result(s): the analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis.Conclusion(s): A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions. (Fertil Steril (R) 2008; 90: 1197.e17-e20. (C) 2008 by American Society for Reproductive Medicine.)en
dc.description.affiliationUniversidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent4
dc.identifierhttps://dx.doi.org/10.1016/j.fertnstert.2007.09.014
dc.identifier.citationFertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.
dc.identifier.doi10.1016/j.fertnstert.2007.09.014
dc.identifier.issn0015-0282
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/30913
dc.identifier.wosWOS:000207699700005
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofFertility and Sterility
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectTurner's syndromeen
dc.subjectY mosaicismen
dc.subjectNontumoral lesionsen
dc.subjectLuteomaen
dc.subjectAndrogen-producing lesionsen
dc.titleClinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 casesen
dc.typeinfo:eu-repo/semantics/article
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