47,XYY karyotype and normal SRY in a patient with a female phenotype

J Pediatr Endocrinol Metab. 2001 Jun;14(6):797-801. doi: 10.1515/jpem.2001.14.6.797.

Abstract

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / pathology
  • Female
  • Genes, sry*
  • Humans
  • Karyotyping*
  • Phenotype
  • Reference Values