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

ObjectiveMaternal 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). DesignThis is a prospective observational study of GH treatment in two girls with matUPD(14) during 2years, and spontaneous growth in another matUPD(14) girl of similar age. PatientsThree girls (patient A, B and C, aged 89, 114 and 127years, respectively) with matUPD(14) were included in this study. MeasurementsPatients A and B were treated with GH during 2years. 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. ResultsIn both treated girls, a considerable increase in height (from -23SD and -12SD to -12SD and -06SD, respectively) and IGF-1 levels (from +01SD and -14SD to +13SD and +09SD, respectively) and, in patient A, a decrease in weight (+12 SD to -07SD), and improved body composition (fat percentage from 515% to 454%) were found. Both experienced improved muscle strength. ConclusionsGH 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.