47,XXY female with testicular feminization and positive SRY: a case report.
J Reprod Med
; 50(2): 138-40, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15755052
BACKGROUND: Males with a 47,XXY karyotype have the clinical phenotype of Klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear. CASE: A 34-year-old woman presented with testicular feminization and a 47,XXY karyotype. Cytogenetic analysis and fluorescence in situ hybridization suggested that the Y chromosome had a normal structure; the polymerase chain reaction was positive for SRY. CONCLUSION: This is the third reported case of 47,XXY with afemale phenotype in spite of the presence of a Y chromosome and the normal SRY. This suggests that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Resistência a Andrógenos
/
Aberrações Cromossômicas
/
Genes sry
/
Cromossomos Humanos Y
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Reprod Med
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Estados Unidos