ESPE Abstracts

Background: Central precocious puberty (CPP) is a premature activation of the hypothalamic-pituitary-gonadal axis. One of its negative effects is lower final adult height (FAH) due to premature epiphyseal closure. GnRH analogues act by desensitizing GnRH receptors and stopping the progression of puberty and prolonging growth period.Objectives: We aimed to evaluate the effect of the GnRH analogue on FAH and identify facto...

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

Introduction: Obesity is the direct cause of a number of immediate problems during childhood. Recently, fat mass was described as a significant negative predictor of serum iron. Hepcidin is a hormone stimulated by an increase in plasma iron levels and iron deposits in tissues, and decreases iron release from macrophages and duodenal enterocytes into the plasma. This protein prevents excessive iron absorption and iron accumulation in tissues. Ferritin is the most commonly deplo...

Background: Peptide hormones synthesized in gastrointestinal tract (GI) and adipose tissues, in addition to neuropeptides, regulate growth and body weight in children. The GI microflora (i.e. Candida albicans – CA and Helicobacter pylori – HP) is an antigenic source. Based on the molecular mimicry hypothesis, intestinal microbe-derived antigens may trigger the production of autoantibodies cross-reacting with regulatory peptides.<p class="abstext...

Background: Prader–Willi syndrome (PWS) is a genetic disorder with hypothalamic–pituitary dysfunction, in which obesity, excess fat to lean body mass cause metabolic complications. For the purpose of these disorders normalization, PWS patients have been treated with recombinant human GH (rhGH). Long-term tolerance in PWS children treated with rhGH is not well known and the data are still required.Objective and hypotheses: To evaluate effects of...

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65&pm;5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Introduction: Advanced glycation end-products (AGEs) are heterogeneous groups of irreversible adducts resulting from non-enzymatic glycation and glyoxidation of proteins, lipids, and nucleic acid. AGEs and its cell receptor RAGE have been involved in the pathophysiology of cardiovascular and metabolic diseases. Interaction of AGEs with RAGE results in an increased generation of oxygen radicals and increased expressions of pro-inflammatory cytokines. Circulating soluble AGE rec...

Background: Subclinical hypothyroidism is a common finding in Down syndrome (DS) patients and transition towards overt hypothyroidism can occur, but there are no predictor factors to identify patients that will need replacement therapy later in life.Objective and hypotheses: This is a retrospective cohort study on a population of DS paediatric patients. This study was designed to evaluate possible early predictive features of hypothyroidism development.<...

Introduction: To achieve glycemic control goals in patients with type 1 diabetes (T1D), they are instructed in three fundamental principles: diet, insulin therapy and physical activity. Physical activity recommendations for children and adolescents with T1D are the same as for the general population. Following the physical activity recommendations helps mitigate the increased cardiovascular risk inherent to DM. We set out to explore the degree of glycemic cont...