ESPE Abstracts

Background: GH secretion increases physiologically during puberty and GH levels correlate with pubertal stage. Therefore, puberty is the most likely time for normalization of GH secretion in children with GHD. No studies have so far evaluated in children diagnosed as GH-deficient during childhood potential predictors of response to the reevaluation of GH secretion during puberty.Objective and hypotheses: The aim of our study is to establish and compare t...

Background and Objective: Diabetic ketoacidosis (DKA) is an acute endocrinological emergency in childhood. It occurs in 20-40% of cases at the onset of Type 1 Diabetes (T1D). DKA is classified as mild, moderate, and severe based on the clinical picture and blood pH levels. This study aims to evaluate the relationship between the characteristics of T1D onset (DKA level, pH, c-peptide) and the glycometabolic control 2, 5, and 10 years after the diagnosis.<p ...

Background and Objective: Type 1 Diabetes (T1D) is one of the most frequent endocrine-metabolic diseases in children and youth. Several studies assessed Sleep Quality (SQ) in Children with Diabetes (CwD), yielding conflicting results. This study aims to test the hypothesis that the use of glucose sensors and insulin pumps in T1D is associated with better QOL and SQ in a group of CwD and their parents/caregiversSubjects and Method...

Keywords: Ulnar-mammary syndrome; TBX3 gene; Hypogonadotropic hypogonadism; Skeletal anomalies, PolydactylyBackground: Hypogonadotropic hypogonadism (HH) is an increasingly frequent medical condition deriving from a dysregulation of the hypothalamic-pituitary-gonadal axis function, which leads to low sex hormone levels associated with low gonadotropin levels. It can be congenital or acquired. Congenital HH, whose inciden...

Background: Familial hypercholesterolemia (FH) is the most common monogenic disorder causing premature atherosclerotic cardiovascular disease (ACVD), particularly early coronary artery disease. Homozygous FH (HoFH) is rare and can be clinically silent in most cases, contributing to delay in diagnosis till the occurrence of potentially fatal cardiovascular events (CVE). Patients with HoFH can be highly resistant to standard pharmacological therapies, and treatm...

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We aim ed to describe our real-life approach of variant re-assessment over time for managing classification uncertainty in the diagnosis of monogenic obesity, and to infer if population data updates and novel functional evidence are decreasing inconclusive variants.Methods: We tested 101 children/adolescents (...

Context: Metabolic dysfunction-associated fatty liver disease (MASLD) is the most common chronic liver disease. Recent data showed that MASLD is a common condition also in adults with type 1 diabetes (T1D) and it is independently associated with an increased risk of diabetic complications.Aims: To examine the prevalence of MASLD and its association with glycemic control metrics in children and adolescents with T1D.<p...

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...