Dysgenetic male pseudohermaphroditism.

Detalhes bibliográficos
Autor(a) principal: Proença, E
Data de Publicação: 2001
Outros Autores: Freitas, S, Fonseca, M, Figueiredo, S, Rodrigues, C
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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spelling 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
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dc.language.iso.fl_str_mv por
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1888/1461
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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
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