ESPE Abstracts

Introduction: For diagnosis of syndrome of hypoglycemia unawareness is used Clarke and/or Gold questionnaire. Frequency of this syndrome in children with type 1 diabetes (T1D) and its association with parameters of metabolic control including the CGM data are not well characterised.Aims and methods: The aim of our study was to find the prevalence of this syndrome in children with T1D (age 8-19 years) followed at our depa...

Introduction: The mechanisms underlying short stature in Noonan Syndrome (NS) are poorly understood and may include inadequate GH secretion or action, decreased IGF-1 production, growth plate dysfunction, or other factors. In this retrospective study, we aimed to evaluate the function of the GH-IGF-1 axis in NS.Method: We took all patients with genetically proven Noonan syndrome among 1001 children and adolescents curren...

Background: The genetic etiology of SGA-SS spans from abnormalities of the GH-IGF-1 axis, growth plate disorders, and defective fundamental intracellular/intranuclear processes, to imprinting conditions. We recently elucidated the genetic etiology in a large cohort of 74 children SGA-SS (Toni L et al, Horm Res Pediat 2024; 97(1): 40-52). Of these, 49 have already completed five years of daily GH therapy.Aim: To analyze 5...

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

Objectives: Data on the role of gluten in type 1 diabetes (T1D) pathogenesis are scarce. We aimed to test whether gluten-free diet (GFD) can decelerate the decline in beta-cell capacity in newly diagnosed non-coeliac T1D children.Methods: Forty six children (aged 10.2±3.3 years) were recruited into this non-randomized self-selected intervention trial: 26 started with GFD, whereas 20 remained on standard diet. Main o...