Dysgenetic male pseudohermaphroditism
Autor(a) principal: | |
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Data de Publicação: | 2001 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/436 |
Resumo: | Acta Med Port. 2001 Sep-Dec;14(5-6):511-4. [Dysgenetic male pseudohermaphroditism] [Article in Portuguese] Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto. Abstract Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. PMID: 11878163 [PubMed - indexed for MEDLINE] |
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Dysgenetic male pseudohermaphroditismPseudohermafroditismo masculino disgenéticoActa Med Port. 2001 Sep-Dec;14(5-6):511-4. [Dysgenetic male pseudohermaphroditism] [Article in Portuguese] Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto. Abstract Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. PMID: 11878163 [PubMed - indexed for MEDLINE]Centro Editor Livreiro da Ordem dos MédicosRepositório Científico do Centro Hospitalar Universitário de Santo AntónioProença, E.Freitas, S.Fonseca, M.Figueiredo, S.Rodrigues, C.2010-08-25T11:51:23Z2001-092001-09-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/vnd.openxmlformats-officedocument.wordprocessingml.documenthttp://hdl.handle.net/10400.16/436por0870-399Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:52:32Zoai:repositorio.chporto.pt:10400.16/436Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:36:25.977254Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Dysgenetic male pseudohermaphroditism Pseudohermafroditismo masculino disgenético |
title |
Dysgenetic male pseudohermaphroditism |
spellingShingle |
Dysgenetic male pseudohermaphroditism Proença, E. |
title_short |
Dysgenetic male pseudohermaphroditism |
title_full |
Dysgenetic male pseudohermaphroditism |
title_fullStr |
Dysgenetic male pseudohermaphroditism |
title_full_unstemmed |
Dysgenetic male pseudohermaphroditism |
title_sort |
Dysgenetic male pseudohermaphroditism |
author |
Proença, E. |
author_facet |
Proença, E. Freitas, S. Fonseca, M. Figueiredo, S. Rodrigues, C. |
author_role |
author |
author2 |
Freitas, S. Fonseca, M. Figueiredo, S. Rodrigues, C. |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Proença, E. Freitas, S. Fonseca, M. Figueiredo, S. Rodrigues, C. |
description |
Acta Med Port. 2001 Sep-Dec;14(5-6):511-4. [Dysgenetic male pseudohermaphroditism] [Article in Portuguese] Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto. Abstract Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. PMID: 11878163 [PubMed - indexed for MEDLINE] |
publishDate |
2001 |
dc.date.none.fl_str_mv |
2001-09 2001-09-01T00:00:00Z 2010-08-25T11:51:23Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10400.16/436 |
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http://hdl.handle.net/10400.16/436 |
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por |
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0870-399X |
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openAccess |
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application/vnd.openxmlformats-officedocument.wordprocessingml.document |
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Centro Editor Livreiro da Ordem dos Médicos |
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Centro Editor Livreiro da Ordem dos Médicos |
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