Abstract
Frasier syndrome is a rare genetic disorder characterized by the association of progressive renal glomerulopathy, 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23 responsible for this syndrome. Patients with this syndrome commonly present with normal female genitalia, streak gonads, and 46, XY karyotyping. Nephropathy in Frasier syndrome conferred as a nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). We herein discuss a 4 year-old-girl who presented as a steroid-resistant nephrotic syndrome and later on diagnosed as a Frasier syndrome.
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