WT1 Gene Mutation Responsible for Male Sex Reversal and Renal Failure: The Frasier Syndrome

Eur J Obstet Gynecol Reprod Biol. 2003 Sep 10;110(1):111-3. doi: 10.1016/s0301-2115(03)00088-5.


We report the case of a young woman with primary amenorrhea. In her childhood, she suffered from renal failure requesting kidney transplantation at the age of 11. The investigations for primary amenorrhea revealed a hypergonadotropic hypogonadism associated with 46 XY karyotype. The association of primary amenorrhea with renal failure suggested Frasier syndrome (FS) or Denys-Drash syndrome (DDS). Genetic analysis revealed a Wilms' tumour (WT1) gene mutation characteristic of the Frasier syndrome. Dysgenetic ovaries were removed laparoscopically due to the risk of gonadal cancer.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Denys-Drash Syndrome / diagnosis
  • Denys-Drash Syndrome / genetics*
  • Denys-Drash Syndrome / surgery
  • Disorders of Sex Development / genetics
  • Gonads / surgery
  • Humans
  • Hypogonadism
  • Karyotyping
  • Kidney Transplantation
  • Male
  • Renal Insufficiency / surgery
  • WT1 Proteins / genetics*


  • WT1 Proteins