Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , |
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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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 |
_version_ |
1822250691353116672 |
dc.identifier.doi.none.fl_str_mv |
10.1016/j.fertnstert.2007.09.014 |