ESPE Abstracts

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

Background: Placenta tissue hold great promise as a source of cells for regenerative medicine due to its plasticity and easy availability. Amniotic Mesenchymal Stem Cells (AMSC) represent a potentially unlimited source of functional pancreatic endocrine lineage cells, used to replenish the islet mass in diabetic patients.Objective and hypotheses: The aim of our study is to culture AMSC in serum-free condition preserving their phenotypic traits. These cul...

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

Background: MicroRNAs (miRNA) are small non coding RNA molecules, key regulators of metabolic pathways. Obesity is characterised by many metabolic changes. NAFLD is seen as a complication of obesity. FOXO-1, key regulator in insulin signalling, has been shown to be implicated in NAFLD. We previously identified miRNAs regulators of the FOXO-1 gene.Objective and hypotheses: To assess in serum whether the regulation of miR-146a and miR-486-5p, FOXO1 gene re...

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

Background: A good metabolic control in preschool children with type 1 diabetes (DM1) is particularly challenging, being easier and safer with continuous subcutaneous insulin infusion (CSII) compared with multiple daily injections (MDI).Objective and hypotheses: Evaluate and compare metabolic control of preschool children with DM1, before and 9 months after CSII therapy.Method: Analytical retrospective study of children under the a...

Background: Functional insulin therapy allows precise insulin adjustments to achieve normoglycaemia.Objective and hypotheses: To assess metabolic control (A1c) and lipid profile in children and adolescents with DM1 in a 3-year period under multiple daily injections (MDI) since the diagnosis.Method: Retrospective analysis of children and adolescents under functional insulin therapy since the diagnosis of DM1. The variables studied w...

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...