title: Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy.
abstract: Mutation of the Wilms tumor gene (WT1) is associated with two well-described syndromes called Denys-Drash (DDS) and Frasier (FS). Both are associated with nephropathy and ambiguous genitalia and have overlapping clinical and molecular features. The known risk of Wilms tumor in DDS and gonadoblastoma (GB) in FS patients requires tumor surveillance. The literature reports the occurrence of GB in DDS as lower than FS. This case highlights a very early presentation of bilateral GB in DDS and the consideration of early prophylactic gonadectomy at the time of diagnosis with DDS.
authors.forename: Payal R
authors.initials: PR
authors.lastname: Patel
authors.forename: John
authors.initials: J
authors.lastname: Pappas
authors.forename: Nicoleta C
authors.initials: NC
authors.lastname: Arva
authors.forename: Bonita
authors.initials: B
authors.lastname: Franklin
authors.forename: Preneet Cheema
authors.initials: PC
authors.lastname: Brar
mesh_terms: D019943:Amino Acid Substitution; D030321:Denys-Drash Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D018450:Disease Progression; D055088:Early Detection of Cancer; D005091:Exons; D005190:Family; D005260:Female; D005783:Gender Identity; D005817:Genetic Counseling; D018238:Gonadoblastoma / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D006066:Gonads / Q000473:pathology / Q000601:surgery; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D020125:Mutation, Missense; D057830:Gender-Affirming Surgery; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins; C583751:WT1 protein, human