ESPE Abstracts

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

Background: The goal of congenital hypothyroidism (CH) treatment is rapid normalization and maintenance of TSH and FT4 in the reference range. Recommended starting dose of levothyroxine (LT4) ranges from 10-15 mg/kg/d. Hyperthyroxinemia can be accepted in the context of normal TSH and LT4 should only be reduced in case of symptoms or repeatedly increased FT4. The aim of this study was to quantify duration and maximum peak of FT4 levels outside the reference range for each CH s...

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: Growth during infancy is a continuation of the rapid fetal growth and its regulation is complex and multifactorial. It is well-established that insulin-like growth factor-I (IGF-I) and its regulators (e.g. IGF binding proteins (IGFBP-3) and pregnancy-associated plasma protein-A2 (PAPP-A2)) are important for prenatal and postnatal growth; however, their significance for growth during infancy is not fully explored.Aims: The aim...

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

Background: Steroid 21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Patients present with cortisol and aldosterone deficiency as well as with hyperandrogenism, leading to virilisation in females and early adrenarche in both sexes. Requiring life-long glucocorticoid (GC) replacement, patients frequently experience daily fluctuations between GC overexposure and deficiency. Increased prevalence of metabolic disease con...

Introduction and Aim: The Incidence of Type 1 diabetes mellitus (T1DM) varies markedly between populations and over time. Recently a number of high incidence countries, including Ireland, have reported a stabilisation and/or reduction in their T1DM incidence rate (IR) in childhood. Ireland, a high incidence country for T1DM, experienced a dramatic increase in T1DM incidence between 1997 and 2008, a stabilisation in incidence between 2014 and 2018 followed by a...

Introduction: The Royal College of Paediatrics and Child Health state that adolescents with significant obesity require access to evidence-based weight management services (WMS). Due to the known benefits of exercise and physical activity (PA) on physiological and psychological outcomes increasing exercise and PA should form a cornerstone of any WMS for adolescents living with obesity. However, supervised exercise interventions face challenges within a clinica...