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

Payal R. Patel, John Pappas, Nicoleta C. Arva, Bonita Franklin, Preneet Cheema Brar*

*Corresponding author for this work

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)971-974
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume26
Issue number9-10
DOIs
StatePublished - Oct 1 2013

Keywords

  • Denys-Drash syndrome
  • Gonadoblastoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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