title: Expanding the clinical spectrum of Frasier syndrome.
abstract: Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature available on the precise spectrum and recommended treatment modalities of this syndrome. We present the clinicopathological findings in 4 patients: 3 phenotypically female adolescents presenting with proteinuria and primary amenorrhea and a 6-month-old baby girl presenting with nephrotic syndrome in whom this very unusual case of early onset was confirmed by molecular studies. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome is reviewed and discussed. Our observation of a case presenting with early clinical manifestations, in contrast with the classical presentation in adolescence, justifies the expansion of the clinical spectrum of Frasier syndrome and contributes to the understanding and appropriate clinical management of these patients.
authors: Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
authors: Katja
authors: K
authors: Gwin
authors: Mariana M
authors: MM
authors: Cajaiba
authors: Alejandra
authors: A
authors: Caminoa-Lizarralde
authors: Maria L
authors: ML
authors: Picazo
authors: Manuel
authors: M
authors: Nistal
authors: Miguel
authors: M
authors: Reyes-Múgica
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics / Q000473:pathology; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D030321:Denys-Drash Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D004407:Dysgerminoma / Q000235:genetics / Q000556:secondary / Q000601:surgery; D042241:Early Diagnosis; D005260:Female; D052159:Frasier Syndrome / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D016162:Genes, Wilms Tumor; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics / Q000473:pathology; D018238:Gonadoblastoma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics / Q000473:pathology; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D010641:Phenotype; D011507:Proteinuria / Q000235:genetics / Q000473:pathology