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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

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Volume 26, Issue 9-10 (Oct 2013)

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

Payal R. Patel
  • Division of Endocrinology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
/ John Pappas
  • Human Genetics Program, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
/ Nicoleta C. Arva
  • Division of Pathology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
/ Bonita Franklin
  • Division of Endocrinology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
/ Preneet Cheema Brar
  • Corresponding author
  • Division of Endocrinology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA
  • Email:
Published Online: 2013-05-09 | DOI: https://doi.org/10.1515/jpem-2012-0409

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.

Keywords: Denys-Drash syndrome; gonadoblastoma

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About the article

Corresponding author: Preneet Cheema Brar, Department of Pediatrics, 462 First Avenue, NBW 8S 4-11, New York, NY 10016, USA, Phone +1 212 263 8021, E-mail:


Received: 2012-12-17

Accepted: 2013-04-01

Published Online: 2013-05-09

Published in Print: 2013-10-01



Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0409. Export Citation

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