title: Recurrence of a dysgerminoma in Frasier syndrome.
abstract: FS is an inherited disease characterized by male pseudohermaphroditism and glomerular involvement leading to end-stage renal disease during adolescence or early adulthood (J Pediatr 1964:64:740). The FS phenotype in 46,XY patients consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma, and development of renal failure in the second decade of life. FS is caused by heterozygous mutation in intron 9 of the WT1 leading to a change in splicing that results in loss of three amino acids (+KTS isoform), thus disrupting the normal ratio of the +KTS/-KTS isoforms that is critical for proper gonadal and renal development (Nat Genet 1997:17:467; Hum Mol Genet 1998:7:709). We report on a patient followed for FS revealed by acute peritoneal syndrome because of ovarian dysgerminoma. Therapeutic options had led to an unusual course with recurrent neoplastic disease after renal transplantation.
authors.affiliation: Service de Pédiatrie and Centre de Référence des Maladies Rénales Rares, Hospices civils de Lyon, Hôpital Femme Mère Enfant and Université Claude Bernard Lyon 1, Lyon, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Mestrallet
authors.forename: Aurélia
authors.initials: A
authors.lastname: Bertholet-Thomas
authors.forename: Bruno
authors.initials: B
authors.lastname: Ranchin
authors.forename: Raymonde
authors.initials: R
authors.lastname: Bouvier
authors.forename: Didier
authors.initials: D
authors.lastname: Frappaz
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
mesh_terms: D000293:Adolescent; D017398:Alternative Splicing; D012734:Disorders of Sex Development; D005260:Female; D052159:Frasier Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005919:Glomerular Filtration Rate; D006059:Gonadal Dysgenesis; D006579:Heterozygote; D006801:Humans; D007438:Introns; D007621:Karyotyping; D016030:Kidney Transplantation; D009154:Mutation; D010051:Ovarian Neoplasms / Q000150:complications / Q000235:genetics / Q000601:surgery*; D010641:Phenotype; D020033:Protein Isoforms; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D020033:Protein Isoforms; D025721:WT1 Proteins