Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy

Payal R. Patel 1 , John Pappas 2 , Nicoleta C. Arva 3 , Bonita Franklin 1 ,  and Preneet Cheema Brar 1
  • 1 Division of Endocrinology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
  • 2 Human Genetics Program, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
  • 3 Division of Pathology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
Payal R. Patel, John Pappas, Nicoleta C. Arva, Bonita Franklin and Preneet Cheema Brar


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.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.