title: Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Manaswitha
authors: M
authors: Khare
authors: June-Anne
authors: JA
authors: Gold
authors: Marie
authors: M
authors: Wencel
authors: John
authors: J
authors: Billimek
authors: Abhilasha
authors: A
authors: Surampalli
authors: Bridgette
authors: B
authors: Duarte
authors: Andria
authors: A
authors: Pontello
authors: Pietro
authors: P
authors: Galassetti
authors: Suzanne
authors: S
authors: Cassidy
authors: Virginia E
authors: VE
authors: Kimonis
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D000375:Aging / Q000378:metabolism; D001823:Body Composition / Q000502:physiology; D015519:Bone Density; D002648:Child; D002872:Chromosome Deletion; D015331:Cohort Studies; D005260:Female; D017353:Gene Deletion; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D019382:Human Growth Hormone