ESPE Abstracts

Introduction: GDM prevalence is increasing worldwide. The aim of the study was to identify potentially modifiable predictors of adverse neonatal outcomes in women with GDM.Methods: This prospective observational study included 576 singleton multiethnic women diagnosed with GDM after 13 weeks of gestational age, followed in the Diabetes and Pregnancy Unit of the CHUV between 4/2012 and 2/2017. Predictors included HbA1c at booking after GDM diagnosis and a...

Introduction: Gestational diabetes mellitus (GDM) is often accompanied by gut dysbiosis, which typically includes a decrease in short chain fatty acid (SCFA)-producing genera. Maternal SCFAs have been found to influence placental immunometabolism and fetal development. The aims of this study were: a) to investigate the associations between maternal and fetal (cord blood-umbilical artery) SCFA levels and offspring anthropometry during the first year of life in ...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

Introduction – Scope: Childhood cancer has an impact on the neurocognitive functions of growing children and adolescents. The aim of this study, which is the first of its kind in Greece, was to examine the differences in neurocognitive abilities between children and adolescents survivors of brain tumors (BT), and survivors of other types of cancer.Method: Study participants were cancer survivors aged 7 to 15 years,...