ESPE Abstracts

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 s...

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 ...

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

Background: Kabuki syndrome (KS; OMIM 147920) is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. Children with KS have a spectrum of clinical features, but one of the key features in KS patients is postnatal growth retardation. GH deficiency has been reported in some children with KS, but no structural research is done in this field.Objective and hypotheses: We studied the growth ho...

Background: Asymmetric dimethylarginine (ADMA) is an endogenous competitive inhibitor of endothelial nitric oxide synthase (NOS), which prevents synthesis of nitric oxide (NO). Low levels of NO are associated with endothelial dysfunction and an increased risk of cardiovascular disease. Diseases associated with high levels of ADMA include metabolic syndrome, chronic kidney disease, diabetes mellitus, insulin resistance, hyperthyroidism and multiple organ failure. Notable, GH tr...