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Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

  • Manaswitha Khare , June-Anne Gold , Marie Wencel , John Billimek , Abhilasha Surampalli , Bridgette Duarte , Andria Pontello , Pietro Galassetti , Suzanne Cassidy and Virginia E. Kimonis EMAIL logo
Published/Copyright: February 7, 2014
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 27 Issue 5-6

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.

Keywords: BMD; bone mineral density; osteopenia; osteoporosis; Prader-Willi syndrome; RDCRN (Rare Diseases Clinical Research Network); uniparental disomy
Corresponding author: Virginia E. Kimonis, MD, MRCP, Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, 101 The City Drive South, ZC4482, Orange, CA 92868, USA, Phone: +1-714-456-5791, Fax: +1-714-456-5330, E-mail:

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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Received: 2013-5-11
Accepted: 2013-8-26
Published Online: 2014-2-7
Published in Print: 2014-5-1

©2014 by Walter de Gruyter Berlin/Boston

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  2. Original articles
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  5. Increased hunger and speed of eating in obese children and adolescents
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  7. Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
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  9. Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
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  22. Prevalence and risk factors of metabolic syndrome in school adolescents of northeast China
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  29. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
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https://doi.org/10.1515/jpem-2013-0180
Keywords for this article
BMD; bone mineral density; osteopenia; osteoporosis; Prader-Willi syndrome; RDCRN (Rare Diseases Clinical Research Network); uniparental disomy

Articles in the same Issue

  1. Frontmatter
  2. Original articles
  3. Assessment of hearing in children with type 1 diabetes mellitus
  4. Insulin resistance and lipid profiles in HIV-infected Thai children receiving lopinavir/ritonavir-based highly active antiretroviral therapy
  5. Increased hunger and speed of eating in obese children and adolescents
  6. Glucagon and insulin cord blood levels in very preterm, late preterm and full-term infants
  7. Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
  8. Prevalence of vitamin D deficiency and its related factors in children and adolescents living in North Khorasan, Iran
  9. Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
  10. A combined nutritional-behavioral-physical activity intervention for the treatment of childhood obesity – a 7-year summary
  11. The effect of earlier puberty on cardiometabolic risk factors in Afro-Caribbean children
  12. Prevalence of risk of deficiency and inadequacy of 25-hydroxyvitamin D in US children: NHANES 2003–2006
  13. Serum uric acid: relationships with biomarkers in adolescents and changes over 1 year
  14. Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka
  15. Investigation of adropin and leptin levels in pediatric obesity-related nonalcoholic fatty liver disease
  16. Diseases accompanying congenital hypothyroidism
  17. Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
  18. Are the characteristics of thyroid cancer different in young patients?
  19. Unsaturated fatty acids and insulin resistance in childhood obesity
  20. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
  21. KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age
  22. Prevalence and risk factors of metabolic syndrome in school adolescents of northeast China
  23. Patient reports
  24. A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis
  25. Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
  26. Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke
  27. Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
  28. Absence of WNT4 gene mutation in a patient with MURCS association
  29. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
  30. Adrenal insufficiency in association with congenital nephrotic syndrome: a case report
  31. Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa
  32. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets
  33. Letter to the Editor
  34. Hyperbilirubinemia in neonates of diabetic mothers: an indirect biomarker of organ damage?
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