ESPE Abstracts

Background: Children who were born small for gestational age (SGA) or with intrauterine growth restriction (IUGR) have increased risk of metabolic disorders such as insulin resistance, diabetes mellitus type 2 and coronary disease in adultness. Most of those children after catch-up growth achieve the same growth as their peers. Nevertheless 10 % of them persist finally short as adults. In the last decade some countries introduced the rhGH treatment to impr...

Background: Sclerostin is an inhibitor of the Wnt/b-catenin bone metabolic pathway. Increased sclerostin levels and reduced bone mineral density (BMD) have been documented in adult patients with diabetes mellitus (DM), predominantly in those with T2DM. No relevant data exist on childhood T1DM.Objective and hypotheses: Our aim was to study plasma sclerostin concentration in children and adolescents with T1DM and controls and to correlate sclerostin levels...

Background: The Fibroblast Growth Factors (FGFs) are a large family of proteins including paracrine, intracrine, and endocrine FGFs. Paracrine and endocrine FGFs interact with specific cell surface receptors (FGFRs) that, via intracellular tyrosine kinase activity, initiate a cascade of downstream intracellular events. Specificity of paracrine/autocrine FGF activity is provided locally by the local production of these FGFs and their cognate receptors. In contrast, endocrine FG...

Background: Generalized joint hypermobility is quite common and seems to be a risk factor for low bone density.Objective: The goal of this study was to determine the bone mineral density in adolescents with hypermobility syndrome.Materials and methods: In a cross-sectional study, we measured the bone mineral density (BMD) and bone mineral apparent density (BMAD) of 32 children, 13 to 18 years old with benign hypermobility syndrome ...

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: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Introduction: Imprinted genes are critical for placental function and normal fetal growth and development. Very little is known about the impact of maternal obesity on imprinted genes and their role in postnatal growth and metabolism.Objectives: 1) To identify umbilical cord DNA methylation sites (CpG) associated with gestational weight gain (GWG); 2) to identify which of these CpGs lie within imprinting control regions ...

Background: Disorders in carbohydrate and lipid metabolism are more common in girls with Turner syndrome (TS) than in general population. Metabolic disorders have been identified as risk factors for the development of cardiovascular diseases. Additionally, TS patients are usually treated many years with growth hormone (GH) that affects the parameters of carbohydrate-lipid metabolism. Therefore cardiovascular risk factors should be monitored in TS girls.<p ...

Background: Small for gestational age (SGA) children are at increased risk of metabolic syndrome in adulthood and have below-average bone mineral density (BMD). Growth hormone treatment reduces fat mass and insulin sensitivity, increases lean body mass and improves height and BMD in short SGA children. We aimed to evaluate changes in body composition in SGA patients treated with growth hormone (GH), after its cessation, compared with young adults born appropriate for gestation...