title: 47,XXY female with testicular feminization and positive SRY: a case report.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departments of Endocrinology and Genetics, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrery, Nuevo Leon, Mexico.
authors.forename: Eloisa
authors.initials: E
authors.lastname: Saavedra-Castillo
authors.forename: Elva I
authors.initials: EI
authors.lastname: Cortés-Gutiérrez
authors.forename: Martha I
authors.initials: MI
authors.lastname: Dávila-Rodríguez
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Reyes-Martínez
authors.forename: Amalia
authors.initials: A
authors.lastname: Oliveros-Rodríguez
mesh_terms: D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005260:Female; D005500:Follow-Up Studies; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction