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

Detalhes bibliográficos
Autor(a) principal: Bianco, Bianca Alves Vieira [UNIFESP]
Data de Publicação: 2008
Outros Autores: Lipay, Monica Vannucci Nunes [UNIFESP], Guedes, Alexis Dourado [UNIFESP], Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
dARK ID: ark:/48912/001300000xhhf
DOI: 10.1016/j.fertnstert.2007.09.014
Texto Completo: https://dx.doi.org/10.1016/j.fertnstert.2007.09.014
https://repositorio.unifesp.br/handle/11600/30913
Resumo: 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.)
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spelling Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 casesTurner's syndromeY mosaicismNontumoral lesionsLuteomaAndrogen-producing lesionsObjective: 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.)Universidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Lab Esteroides, Dept Med, Div Endocrinol, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 São Paulo, BrazilWeb of ScienceElsevier B.V.Universidade Federal de São Paulo (UNIFESP)Bianco, Bianca Alves Vieira [UNIFESP]Lipay, Monica Vannucci Nunes [UNIFESP]Guedes, Alexis Dourado [UNIFESP]Verreschi, Ieda Therezinha do Nascimento [UNIFESP]2016-01-24T13:51:42Z2016-01-24T13:51:42Z2008-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion4https://dx.doi.org/10.1016/j.fertnstert.2007.09.014Fertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.10.1016/j.fertnstert.2007.09.0140015-0282https://repositorio.unifesp.br/handle/11600/30913WOS:000207699700005ark:/48912/001300000xhhfengFertility and Sterilityinfo:eu-repo/semantics/openAccesshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policyreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2023-07-31T19:17:31Zoai:repositorio.unifesp.br/:11600/30913Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-12-11T20:43:24.584173Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
title Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
spellingShingle Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
Bianco, Bianca Alves Vieira [UNIFESP]
Turner's syndrome
Y mosaicism
Nontumoral lesions
Luteoma
Androgen-producing lesions
Bianco, Bianca Alves Vieira [UNIFESP]
Turner's syndrome
Y mosaicism
Nontumoral lesions
Luteoma
Androgen-producing lesions
title_short Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
title_full Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
title_fullStr Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
title_full_unstemmed Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
title_sort Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
author Bianco, Bianca Alves Vieira [UNIFESP]
author_facet Bianco, Bianca Alves Vieira [UNIFESP]
Bianco, Bianca Alves Vieira [UNIFESP]
Lipay, Monica Vannucci Nunes [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Lipay, Monica Vannucci Nunes [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
author_role author
author2 Lipay, Monica Vannucci Nunes [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
author2_role author
author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Bianco, Bianca Alves Vieira [UNIFESP]
Lipay, Monica Vannucci Nunes [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
dc.subject.por.fl_str_mv Turner's syndrome
Y mosaicism
Nontumoral lesions
Luteoma
Androgen-producing lesions
topic Turner's syndrome
Y mosaicism
Nontumoral lesions
Luteoma
Androgen-producing lesions
description 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.)
publishDate 2008
dc.date.none.fl_str_mv 2008-10-01
2016-01-24T13:51:42Z
2016-01-24T13:51:42Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://dx.doi.org/10.1016/j.fertnstert.2007.09.014
Fertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.
10.1016/j.fertnstert.2007.09.014
0015-0282
https://repositorio.unifesp.br/handle/11600/30913
WOS:000207699700005
dc.identifier.dark.fl_str_mv ark:/48912/001300000xhhf
url https://dx.doi.org/10.1016/j.fertnstert.2007.09.014
https://repositorio.unifesp.br/handle/11600/30913
identifier_str_mv Fertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.
10.1016/j.fertnstert.2007.09.014
0015-0282
WOS:000207699700005
ark:/48912/001300000xhhf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Fertility and Sterility
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
eu_rights_str_mv openAccess
rights_invalid_str_mv http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.format.none.fl_str_mv 4
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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dc.identifier.doi.none.fl_str_mv 10.1016/j.fertnstert.2007.09.014