ESPE Abstracts

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

Objective: Re-testing of childhood-onset GHD needs discontinuation of GH treatment at near-adult height. We recently reported significant changes of body composition as a consequence of severe GHD during this time period.Aim: Does a 6 month interruption of GH treatment decrease bone quality significantly in patients with severe GHD of adolescence?Patients and Methods: In 90 patient...

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...

Background: Copeptin is a surrogate marker for arginine vasopressin (AVP) release in response to hyperosmolal stimuli such as diabetic ketoacidosis (DKA). We aimed to characterize the temporal course (kinetics) of serum osmolality and copeptin during rehydration and insulin therapy in children with type 1 diabetes (T1D) and DKA, and the relationship between both (dynamics).Methods: An observational multi-center study was...

Background: Type 1 diabetes (T1D) is a chronic disease characterized by autoimmune destruction of pancreatic beta-cells. Dysregulated miRNA levels have been described in T1D patients, though results are inconclusive.Objective and Hypotheses: The aim of this study was to assess the circulating profile of different miRNAs in children at diagnosis of T1D.Method: 27 children with T1D o...

Background: Pre-eclampsia is associated with important complications for both mother and baby in the short term, but there are limited data about its long-term effects on offspring metabolism. Thus, we aimed to assess whether maternal pre-eclampsia was associated with adverse effects on metabolism and body composition in the offspring in childhood.Methods: We studied healthy pre-pubertal children (aged 4–10 years) b...