Publication
Dysgenetic male pseudohermaphroditism
| dc.contributor.author | Proença, E. | |
| dc.contributor.author | Freitas, S. | |
| dc.contributor.author | Fonseca, M. | |
| dc.contributor.author | Figueiredo, S. | |
| dc.contributor.author | Rodrigues, C. | |
| dc.date.accessioned | 2010-08-25T11:51:23Z | |
| dc.date.available | 2010-08-25T11:51:23Z | |
| dc.date.issued | 2001-09 | |
| dc.description.abstract | 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] | por |
| dc.identifier.issn | 0870-399X | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/436 | |
| dc.language.iso | por | por |
| dc.publisher | Centro Editor Livreiro da Ordem dos Médicos | por |
| dc.relation.publisherversion | http://www.actamedicaportuguesa.com | por |
| dc.title | Dysgenetic male pseudohermaphroditism | por |
| dc.title.alternative | Pseudohermafroditismo masculino disgenético | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa | por |
| oaire.citation.title | Acta Médica Portuguesa | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |