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

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dc.contributor.author Bianco, Bianca [UNIFESP]
dc.contributor.author Lipay, Monica Vannucci Nunes [UNIFESP]
dc.contributor.author Guedes, Alexis Dourado [UNIFESP]
dc.contributor.author Verreschi, Ieda T. N. [UNIFESP]
dc.date.accessioned 2016-01-24T13:51:42Z
dc.date.available 2016-01-24T13:51:42Z
dc.date.issued 2008-10-01
dc.identifier http://dx.doi.org/10.1016/j.fertnstert.2007.09.014
dc.identifier.citation Fertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.
dc.identifier.issn 0015-0282
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/30913
dc.description.abstract Objective: 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.format.extent 4
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Fertility and Sterility
dc.rights Acesso aberto
dc.subject Turner's syndrome en
dc.subject Y mosaicism en
dc.subject nontumoral lesions en
dc.subject luteoma en
dc.subject androgen-producing lesions en
dc.title Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases en
dc.type Editorial
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, Brazil
dc.identifier.doi 10.1016/j.fertnstert.2007.09.014
dc.description.source Web of Science
dc.identifier.wos WOS:000207699700005



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