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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

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Pediatric 25-hydroxyvitamin D concentrationsin neurofibromatosis type 1

1, 2 / David H. Viskochil1, 2 / John C. Carey1, 2 / Xiaoming Sheng1 / Mary Murray1 / Laurie Moyer-Mileur1 / Judd Shelton1 / William L. Roberts3, 4 / Ashley M. Bunker3 / Heather Hanson1 / Stephanie Bauer1 / Jacques L. D’Astous2, 5

1Department of Pediatrics, University of Utah, Salt Lake City, UT, USA

2Shriners Hospital for Children Salt Lake City, Salt Lake City, UT, USA

3ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA

4Department of Pathology, University of Utah, Salt Lake City, UT, USA

5Department of Orthopedics, University of Utah, Salt Lake City, UT, USA

Corresponding author: Dr. David A. Stevenson, University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, UT 84132, USA Phone: +1-801-5818943, Fax: +1-801-5857252

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 3-4, Pages 169–174, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2011.092, April 2011

Publication History

Published Online:


Objective: Low 25-hydroxyvitamin D (25OHD) concentrations have been associated with tumors and osteopenia or fractures in adults with neurofibromatosis type 1 (NF1). We report 25OHD concentrations in 109 children with NF1 and 218 controls matched for age, sex, geographic location, and time of year.

Methods: Children with NF1 were recruited (n=109; 2–17 years), and clinical data and dual-energy X-ray absorptiometry measurements were obtained. 25OHD concentrations were measured in subjects and controls.

Results: More NF1 individuals (50%) were in the 25OHD insufficient or deficient range (<30 ng/mL) (1 ng/mL=2.496 nmol/L) compared to controls (36%) (p=0.0129). 25OHD concentrations were higher in individuals with neurofibromas after controlling for age (p=0.0393), and were negatively associated with whole-body subtotal bone mineral density (BMD) z-scores (p=0.0385).

Conclusions: More children with NF1 had 25OHD concentrations <30 ng/mL, potentially because of increased pigmentation and/or decreased sunlight exposure. In contrast to adults, decreased 25OHD concentrations were not associated with neurofibromas, and there was no positive association between 25OHD and BMD.

Keywords: bone dysplasia; bone health; neurofibromas; neurofibromatosis; vitamin D

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