Frasier Syndrome: A Rare Disorder in a Patient With Nephrotic Syndrome

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