47,XXY female with testicular feminization and positive SRY: a case report

J Reprod Med. 2005 Feb;50(2):138-40.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Androgen-Insensitivity Syndrome / diagnosis*
  • Androgen-Insensitivity Syndrome / genetics*
  • Base Sequence
  • Chromosome Aberrations*
  • Chromosomes, Human, Y*
  • Female
  • Follow-Up Studies
  • Genes, sry / genetics*
  • Humans
  • In Situ Hybridization
  • Karyotyping
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction