Abstract
Background: Currently, there is limited information on the effects of growth hormone and of the different genetic subtypes on bone mineral density (BMD) in Prader-Willi syndrome (PWS).
Methods: We evaluated BMD in 79 individuals with the common subtypes of PWS (48 with deletion and 27 with UPD) and the effect of growth hormone treatment (n=46) vs. no growth hormone treatment.
Results: Forty-four percent of the individuals studied had whole body, hip, or spine BMD <–1 standard deviation (SD) and 10% had a BMD <–2 SD. BMD Z-scores and total BMD (g/cm2) of the spine were significantly higher in the growth hormone group. With each year of growth hormone treatment, these values increased by a factor of 0.207 and 0.011 (p=0.006 and 0.032), respectively. Individuals with uniparental disomy revealed higher spine BMD compared with deletion subclass; however, the differences were not significant.
Conclusion: This study emphasizes the importance of evaluating bone mineralization in individuals with PWS and the beneficial effects of prolonged treatment with growth hormone. There was a trend for a higher BMD in individuals with uniparental disomy.
Acknowledgments
We thank the individuals and families who have contributed to this work and their health care providers. This study was supported by NIH U54 grants RR019478 and HD061222, Office of Rare Diseases Research. The authors acknowledge the other RDCRN sites involved in the Prader-Willi natural history study. We thank Drs. Daniel Driscoll, MD, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, Merlin Butler, Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS, Elisabeth Dykens, Vanderbilt Kennedy Center, Vanderbilt University, Nashville, TN and their research groups for their encouragement and support for this study. We appreciate the gracious assistance of Dr. Mary Lou Oster-Granite, Health Scientist Administrator at NICHD, and Dr. Melissa Parisi, chief of the Intellectual and Developmental Disabilities Branch at the Eunice Kennedy Shriver, NICHD, NIH, who provided invaluable guidance, support, and encouragement for this rare disease initiative. The authors also thank the March of Dimes/Birth Defects Foundation for their grant (1999–2003) to study the earlier cohort, ICTS, UC Irvine, CA for funding, and the staff at the UC Irvine and Case Western Reserve for their invaluable help with this study.
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