Expanding the clinical spectrum of Frasier syndrome

Pediatr Dev Pathol. 2008 Mar-Apr;11(2):122-7. doi: 10.2350/07-01-0209.1. Epub 2007 Mar 22.

Abstract

Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature available on the precise spectrum and recommended treatment modalities of this syndrome. We present the clinicopathological findings in 4 patients: 3 phenotypically female adolescents presenting with proteinuria and primary amenorrhea and a 6-month-old baby girl presenting with nephrotic syndrome in whom this very unusual case of early onset was confirmed by molecular studies. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome is reviewed and discussed. Our observation of a case presenting with early clinical manifestations, in contrast with the classical presentation in adolescence, justifies the expansion of the clinical spectrum of Frasier syndrome and contributes to the understanding and appropriate clinical management of these patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amenorrhea / genetics
  • Amenorrhea / pathology
  • Chromosomes, Human, X
  • Chromosomes, Human, Y
  • Denys-Drash Syndrome / diagnosis
  • Diagnosis, Differential
  • Dysgerminoma / genetics
  • Dysgerminoma / secondary
  • Dysgerminoma / surgery
  • Early Diagnosis
  • Female
  • Frasier Syndrome / genetics*
  • Frasier Syndrome / pathology*
  • Frasier Syndrome / physiopathology
  • Genes, Wilms Tumor
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / pathology
  • Gonadoblastoma / genetics
  • Gonadoblastoma / pathology
  • Gonadoblastoma / surgery
  • Humans
  • Infant
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / pathology
  • Mutation
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / pathology
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology
  • Ovarian Neoplasms / surgery
  • Phenotype
  • Proteinuria / genetics
  • Proteinuria / pathology