ESPE Abstracts (2016) 86 P-P2-642

The Influence of Growth Hormone Treatment on the Basal Metabolism in Prepubertal Children with Kabuki Syndrome

Robin Remmela, Dina Schotta,b, Willem-Jan Gervera & Constance Stumpela

aMaastricht University Medical Center, Maastricht, Maastricht, The Netherlands; bZuyderland Medical Center, Heerlen, The Netherlands

Background: The influence of growth hormone (GH) on the metabolism of prepubertal children with Kabuki syndrome (KS) was never investigated before. Kabuki syndrome (KS) is a rare syndrome, which is mainly characterized by mental retardation, short stature, specific facial features, obesity and hypotonia. This syndrome caused by a mutation in the KMT2D or KDM6A gene.

Objective and hypotheses: In this prospective study we investigated the influence of GH on the basal metabolic rate (BMR) and physical activity in genetically proven, prepubertal children with KS.

Method: We included 19 KS children, ten girls and nine boys with a mean age of 6.87±2.23 year. The BMR before start and during GH treatment was measured with the ventilated hood (VH) technique. We calculated the BMR by Weirs’ formula. The accelerometer was used to measure the physical activity.

Results: The VH data were useful in 18 of the 19 children, we found that the mean BMR before the start of GH treatment was 3.17±0.52 kj/min and this increased significantly (P=0.001) during GH treatment to 3.70±0.57 kj/min. The children who wore the accelerometer correctly had a mean wearing time of 8.5 days and this resulted in six out of ten in a higher physical activity during GH treatment than before the start of GH. In conclusion, the BMR is significantly higher during GH treatment compared to the baseline value and in the majority of the cases the physical activity raised by GH treatment in children with KS.

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