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: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888 |
Resumo: | 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. |
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Dysgenetic male pseudohermaphroditism.Pseudohermafroditismo masculino disgenético.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.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.Ordem dos Médicos2001-12-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888oai:ojs.www.actamedicaportuguesa.com:article/1888Acta Médica Portuguesa; Vol. 14 No. 5-6 (2001): Setembro-Dezembro; 511-514Acta Médica Portuguesa; Vol. 14 N.º 5-6 (2001): Setembro-Dezembro; 511-5141646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888/1461Proença, EFreitas, SFonseca, MFigueiredo, SRodrigues, Cinfo:eu-repo/semantics/openAccess2022-12-20T10:59:26Zoai:ojs.www.actamedicaportuguesa.com:article/1888Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:27.738097Repositório 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.author.fl_str_mv |
Proença, E Freitas, S Fonseca, M Figueiredo, S Rodrigues, C |
description |
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. |
publishDate |
2001 |
dc.date.none.fl_str_mv |
2001-12-31 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888 oai:ojs.www.actamedicaportuguesa.com:article/1888 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/1888 |
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por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888/1461 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 14 No. 5-6 (2001): Setembro-Dezembro; 511-514 Acta Médica Portuguesa; Vol. 14 N.º 5-6 (2001): Setembro-Dezembro; 511-514 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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