Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy : Journal of Pediatric Endocrinology and Metabolism

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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

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

Payal R. Patel1 / John Pappas2 / Nicoleta C. Arva3 / Bonita Franklin1 / 1

1Division of Endocrinology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA

2Human Genetics Program, Department of Pediatrics, NYU School of Medicine, New York, NY, USA

3Division of Pathology, Department of Pediatrics, NYU School of Medicine, New York, NY, USA

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:

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 26, Issue 9-10, Pages 971–974, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2012-0409, May 2013

Publication History

Received:
2012-12-17
Accepted:
2013-04-01
Published Online:
2013-05-09

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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[1]
Ayhan Abacı, Gönül Çatlı, and Merih Berberoğlu
Journal of Pediatric Endocrinology and Metabolism, 2015, Volume 28, Number 9-10

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