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; Virginia E. Kimonis

doi:10.1515/jpem-2013-0180

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
, Virginia E. Kimonis

Research output: Contribution to journal › Article › peer-review

Abstract

UNLABELLED: 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.

Original language	English
Pages (from-to)	511-518
Number of pages	8
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	27
Issue number	5-6
DOIs	https://doi.org/10.1515/jpem-2013-0180
State	Published - May 2014
Externally published	Yes

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

Keywords

BMD
Bone mineral density
Osteopenia
Osteoporosis
Prader-Willi syndrome
RDCRN (Rare Diseases Clinical Research Network)
Uniparental disomy
Chromosome Deletion
Aging/metabolism
Bone Density
Prader-Willi Syndrome/drug therapy
Humans
Male
Absorptiometry, Photon
Body Composition/physiology
Recombinant Proteins/therapeutic use
Gene Deletion
Adolescent
Female
Human Growth Hormone/therapeutic use
Child
Cohort Studies

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

abstract = "UNLABELLED: 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.",

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author = "Manaswitha Khare and Gold, \{June Anne\} and Marie Wencel and John Billimek and Abhilasha Surampalli and Bridgette Duarte and Andria Pontello and Pietro Galassetti and Suzanne Cassidy and Kimonis, \{Virginia E.\}",

note = "J Pediatr Endocrinol Metab. 2014 May;27(5-6):511-8. doi: 10.1515/jpem-2013-0180. Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't",

year = "2014",

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doi = "10.1515/jpem-2013-0180",

language = "English",

volume = "27",

pages = "511--518",

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T1 - Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

AU - Khare, Manaswitha

AU - Gold, June Anne

AU - Wencel, Marie

AU - Billimek, John

AU - Surampalli, Abhilasha

AU - Duarte, Bridgette

AU - Pontello, Andria

AU - Galassetti, Pietro

AU - Cassidy, Suzanne

AU - Kimonis, Virginia E.

N1 - J Pediatr Endocrinol Metab. 2014 May;27(5-6):511-8. doi: 10.1515/jpem-2013-0180. Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

PY - 2014/5

Y1 - 2014/5

N2 - UNLABELLED: 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.

AB - UNLABELLED: 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.

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KW - Chromosome Deletion

KW - Aging/metabolism

KW - Bone Density

KW - Prader-Willi Syndrome/drug therapy

KW - Humans

KW - Male

KW - Absorptiometry, Photon

KW - Body Composition/physiology

KW - Recombinant Proteins/therapeutic use

KW - Gene Deletion

KW - Adolescent

KW - Female

KW - Human Growth Hormone/therapeutic use

KW - Child

KW - Cohort Studies

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M3 - Article

C2 - 24515997

SN - 0334-018X

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SP - 511

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JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 5-6

ER -

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

Abstract

ASJC Scopus Subject Areas

Keywords

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