ESPE Abstracts

Background: Very preterm neonates are at risk for metabolic syndrome later in life. Our objective was to compare anthropometric measures and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and term (T, >37 gestational weeks), and adequate for gestational age (AGA).Methods: In this cross-sectional cohort study we recruited 113 children 5.0 to 8.5 years old from the preterm clinic of our institu...

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...

Context: In the diagnosis of permanent GH deficiency (GHD) during the transition phase, the 2019 AACE guidelines recommended peak GH-cutoffs of ≤3µg/L and ≤1µg/L for the glucagon test (GST), while a recent investigation identified a value <5.8μg/L as a suitable gold standard (Fava et al, Journal of Clinical Endocrinology and Metabolism, 2024). However, the clinical applicability of this cutoff remains to be confirmed and the potential c...

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

Introduction: Central diabetes insipidus (CDI) diagnosis is challenging, since water deprivation test has sub-optimal sensitivity and specificity and carries an important burden for patients and care-givers. Several authors have investigated arginine as a stimulus for AVP secretion – evaluated by dosing copeptin, a pre-pro AVP cleavage product - and normal values for adult patients have already been established.Aims and Met...

Background: The benefit of re-screening at 15 days of life in infants born to mothers with thyroid diseases (TD+) is a debated issue. In Italy, all the 16 newborn screening (NBS) laboratories use TSH measurement on dried blood spot as primary screening test for primary congenital hypothyroidism (CH) and adopt a 2-screen strategy in special categories of infants at risk of delayed TSH rise (preterm birth, admission to NICU, extra-thyroidal malformations, twinni...

Introduction: Graves'disease (GD) is the most common cause of hyperthyroidism in pediatric populations. Recent observations at our tertiary center suggest a potential increase in pediatric GD cases following the COVID-19 pandemic. This single-center study aims to investigate the potential increase in GD cases and explore any significant differences in clinical presentation and outcomes before and after the onset of COVID-19 pandemic.<p class="abstext"...

Introduction: Childhood obesity is an international pandemic which affects 13% of Canadian youth, and is the leading cause of cardiovascular disease (CVD) in children. While the optimal approach to treat pediatric obesity remains elusive, comprehensive and intensive behavioral interventions which leverage the child’s living environment in order to promote improvements in healthy lifestyles appear promising. The CIRCUIT program (Centre Pédiatrique d’Intervent...