Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14

Clin Endocrinol (Oxf). 2015 Nov;83(5):671-6. doi: 10.1111/cen.12841. Epub 2015 Jul 28.


Objective: Maternal uniparental disomy of chromosome 14 (matUPD(14)) resembles Prader-Willi syndrome (PWS). As positive effects of growth hormone (GH) are observed in individuals with PWS, treatment with GH may be useful in individuals with matUPD(14) as well. The aim of this study was to investigate the effect of GH treatment on growth and body composition in children with matUPD(14).

Design: This is a prospective observational study of GH treatment in two girls with matUPD(14) during 2 years, and spontaneous growth in another matUPD(14) girl of similar age.

Patients: Three girls (patient A, B and C, aged 8·9, 11·4 and 12·7 years, respectively) with matUPD(14) were included in this study.

Measurements: Patients A and B were treated with GH during 2 years. Patient C was not treated with GH, as she was diagnosed at an age at which she attained near-final height. Main outcome measures included height, weight, body proportions, IGF-1, bone age, and DXA scan for body composition.

Results: In both treated girls, a considerable increase in height (from -2·3SD and -1·2SD to -1·2SD and -0·6SD, respectively) and IGF-1 levels (from +0·1SD and -1·4SD to +1·3SD and +0·9SD, respectively) and, in patient A, a decrease in weight (+1·2 SD to -0·7SD), and improved body composition (fat percentage from 51·5% to 45·4%) were found. Both experienced improved muscle strength.

Conclusions: GH treatment in matUPD(14) cases can show beneficial effects on growth and body composition if started in time. Larger, international studies to determine detailed effectivity and side effects are suggested.

Publication types

  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Body Composition / drug effects
  • Child
  • Child Development / drug effects
  • Chromosomes, Human, Pair 14*
  • Female
  • Growth Hormone / pharmacology
  • Growth Hormone / therapeutic use*
  • Humans
  • Prospective Studies
  • Uniparental Disomy*


  • Growth Hormone