Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness

Pediatr Nephrol. 2010 Oct;25(10):2171-4. doi: 10.1007/s00467-010-1518-x. Epub 2010 Apr 24.


Frasier syndrome is characterized by progressive glomerulopathy that is unresponsive to corticosteroids, male pseudohermaphroditism, and an increased risk of genitourinary tumors. Of 21 girls with steroid-resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis (FSGS) who were screened for mutations in the WT1 gene, two showed Frasier syndrome. Both patients had donor splice-site mutations in intron 9 of the WT1 gene and a male karyotype (46, XY). Long-term therapy with cyclosporine resulted in partial remission in both cases. One patient showed foci of gonadoblastoma in the excised dysgenetic gonads. This report highlights the need for screening for mutations in the WT1 gene in girls with steroid-resistant FSGS. Patients with Frasier syndrome might benefit from early gonadectomy.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cyclosporine / therapeutic use*
  • Female
  • Frasier Syndrome / complications*
  • Frasier Syndrome / drug therapy*
  • Frasier Syndrome / genetics
  • Genes, Wilms Tumor
  • Glomerulosclerosis, Focal Segmental / genetics
  • Gonadoblastoma / genetics*
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Male
  • Mutation
  • Nephrotic Syndrome / genetics


  • Immunosuppressive Agents
  • Cyclosporine