ESPE Abstracts

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

Background: In 2007, non-coding variants in the promoter of SLC16A1, a beta-cell disallowed gene, were reported as a novel genetic cause of exercise-induced hyperinsulinism (HI). In this study, three different promoter variants were identified in 13 affected individuals from three families. It was proposed that these variants caused MCT1, which is encoded by SLC16A1, to be inappropriately expressed in the pancreatic beta cells resulting in insulin secretion in...

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...

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...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...