ESPE Abstracts

Children and adolescents with obesity and clustering of cardiometabolic risk factors, such as hypertension, dyslipidemia, and prediabetes are exposed to endothelial damage, vascular and myocardial remodeling, and atherosclerosis. If not adequately treated, these alterations may contribute to early morbility and mortality for adverse cardiovascular events in adulthood. Physical activity (PA) plays an important role in the treatment of obesity and its cardiometabolic comorbiditi...

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...

Background: Brain-Lung-Thyroid (BLT) syndrome (OMIM# 610978) is characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS), and benign hereditary chorea and is caused by thyroid transcription factor 1 (NKX2-1/TTF1) haploinsufficiency. The phenotype can be partial or complete and there is a large phenotypic variability.Objectives and hypotheses: Identify new genes in a selected group of patients presenting thyroi...

Aims: The TEENs study is an international, cross-sectional observational study aiming to assess type 1 diabetes (T1D) management and psychosocial parameters in children, adolescents, and young adults, to identify approaches to optimise glycaemic control and outcomes. Results from 11 European countries are presented.Methods: 111 centres providing diabetes care to young T1D patients collected data by participant interview, medical record review and partici...

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

Background: SHOX and enhancer regions on PAR1 disorders have variable phenotypic consequences such as idiopathic short stature (ISS) and Leri-Weill Dyschondrosteosis (LWD).Objective and hypotheses: The aim of this observational multicentric study was to describe phenotypes and genotypes of a large population with mutation on SHOX and adjacent regions and to identify a possible phenotype–genotype correlation.M...