Background: The influence of GH on prepubertal children with Kabuki Syndrome (KS) is a novel field of research. KS is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. These mutation causes distinct phenotypically features, such as short stature and facial dysmorphology. Earlier studies describe a high incidence of obesity in children with KS.
Aims and objectives: In this prospective study we investigated the influence of GH on the total energy expenditure (TEE) and fat-free mass (FFM) in genetically proven, prepubertal children with KS.
Methods: Nineteen children with KS were included, 10 girls and 9 boys with a mean age of 6.87±2.23 year. The total body water (TBW) before start and during GH treatment was measured with double-labeled water (DLW) technique. We used the DLW also to calculate the TEE in kJ/min. The FFM was calculated by dividing the TBW by the water percentage of FFM for children (Lohman et al. 1989).
Results and conclusions: The data from 17 of the 19 children could be used for calculations; the data from the other two children were incomplete. We found that the mean TEE before the start of GH treatment was 3.60±1.39 kJ/min and this increased significantly (P<0.0001) during GH treatment to 5.51±1.91 kJ/min. The FFM was also significantly increased during GH treatment compared to the baseline (P=0.014). The increase of metabolic activity and FFM may decrease the number of obese children with KS and hopefully reduce the chance to develop metabolic syndrome later in life.
Disclosure: Pfizer sponsors this study.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology