ESPE Abstracts

Background: There are international guidelines on screening for Microalbuminuria (MA) in children with Type1 Diabetes Mellitus (T1DM). But the National Paediatric Diabetic Audit, UK suggests that screening is missed in over 50% of cases. Further, there is little data on the management and natural course of MA in children by frontline units.Objective and hypotheses: To describe the prevalence, management and natural course of MA in children and adolescent...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment, auxology, IGF1 concentration a...

Background: Vitamin D deficiency has been associated with left ventricular geometry and hypertrophy and larger end-systolic diameters and worse left ventricular function in animals and humans.Objective and hypotheses: The aim of this study was to investigate any possible association between vitamin D levels and geometry of left ventricle (LV) in youngsters with type 1 diabetes mellitus (T1DM).Method: 58 youngsters with T1DM with me...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

Background: In type 1 diabetes (T1D), the pancreatic βcells are selectively destroyed by the immune system resulting in absolute insulin deficiency. It has been long established that approximately half of the genetic risk for T1D is conferred by genetic loci associated with β-cell function, apoptosis, and regeneration.Aim: We report the case of a 6- year-old boy with new onset type T1D, and identified genetic l...

Background: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by early onset, autosomal dominant inheritance and a defect in β cell insulin secretion. To date 14 different MODY subtypes have been reported each one with a distinct genetic aetiology. However four are the most common subtypes, namely MODY 1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY...

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...