Article
Frasier syndrome: four new cases with unusual presentations.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012
Guaragna Mara Sanches, Lutaif Anna Cristina Gervásio de Britto, Bittencourt Viviane Barros, Piveta Cristiane Santos Cruz, Soardi Fernanda Caroline, Castro Luiz Claudio Gonçalves, Belangero Vera Maria Santoro, Maciel-Guerra Andréa Trevas, Guerra-Junior Gil, Mello Maricilda Palandi De
Abstract excerpt
Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in...
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