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Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness
Aditi Sinha1, Sonika Sharma, Ashima Gulati
1Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
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.
Insights
Frasier syndrome, a rare genetic disorder, involves kidney disease and male pseudohermaphroditism. Screening for WT1 gene mutations is crucial in girls with steroid-resistant nephrotic syndrome to identify this condition.
Area of Science:
- Genetics
- Nephrology
- Endocrinology
Background:
- Frasier syndrome presents with progressive glomerulopathy, male pseudohermaphroditism, and high genitourinary tumor risk.
- It is often associated with steroid-resistant nephrotic syndrome, specifically focal segmental glomerulosclerosis (FSGS).
Observation:
- Two female patients with steroid-resistant FSGS were screened for Wilms tumor 1 (WT1) gene mutations.
- Both patients exhibited Frasier syndrome, possessing a male karyotype (46, XY) and splice-site mutations in WT1 intron 9.
Findings:
- Cyclosporine therapy led to partial remission in both patients.
- One patient developed gonadoblastoma within dysgenetic gonads, necessitating gonadectomy.
Implications:
- WT1 gene mutation screening is recommended for girls with steroid-resistant FSGS.
- Early gonadectomy may be beneficial for patients diagnosed with Frasier syndrome to mitigate tumor risk.
