title: WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome.
abstract: We report the case of a young woman with primary amenorrhea. In her childhood, she suffered from renal failure requesting kidney transplantation at the age of 11. The investigations for primary amenorrhea revealed a hypergonadotropic hypogonadism associated with 46 XY karyotype. The association of primary amenorrhea with renal failure suggested Frasier syndrome (FS) or Denys-Drash syndrome (DDS). Genetic analysis revealed a Wilms' tumour (WT1) gene mutation characteristic of the Frasier syndrome. Dysgenetic ovaries were removed laparoscopically due to the risk of gonadal cancer.
authors.affiliation: Service de gynécologie-obstétrique, Hôpital Erasme, Université Libre de Bruxelles, 808, route de Lennik, 1070, Bruxelles, Belgium. keziban.saylam@ulb.ac.be
authors.forename: K
authors.initials: K
authors.lastname: Saylam
authors.forename: P
authors.initials: P
authors.lastname: Simon
mesh_terms: D000328:Adult; D030321:Denys-Drash Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D012734:Disorders of Sex Development / Q000235:genetics; D006066:Gonads / Q000601:surgery; D006801:Humans; D007006:Hypogonadism; D007621:Karyotyping; D016030:Kidney Transplantation; D008297:Male; D051437:Renal Insufficiency / Q000601:surgery; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D025721:WT1 Proteins