ESPE Abstracts

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...