title: Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness.
abstract: 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.
authors.affiliation: Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Sinha
authors.forename: Sonika
authors.initials: S
authors.lastname: Sharma
authors.forename: Ashima
authors.initials: A
authors.lastname: Gulati
authors.forename: Alok
authors.initials: A
authors.lastname: Sharma
authors.forename: Sandeep
authors.initials: S
authors.lastname: Agarwala
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D002648:Child; D002675:Child, Preschool; D016572:Cyclosporine / Q000627:therapeutic use*; D005260:Female; D052159:Frasier Syndrome / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D016162:Genes, Wilms Tumor; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics; D018238:Gonadoblastoma / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics
chemical_list: D007166:Immunosuppressive Agents; D016572:Cyclosporine