Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/436
Título: Dysgenetic male pseudohermaphroditism
Outros títulos: Pseudohermafroditismo masculino disgenético
Autor: Proença, E.
Freitas, S.
Fonseca, M.
Figueiredo, S.
Rodrigues, C.
Data: Set-2001
Editora: Centro Editor Livreiro da Ordem dos Médicos
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]
URI: http://hdl.handle.net/10400.16/436
ISSN: 0870-399X
Versão do Editor: http://www.actamedicaportuguesa.com
Aparece nas colecções:SCir.P - Artigos publicados em revistas indexadas na Medline

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