ESPE Abstracts

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

Non-autoimmune hypothyroidism is characterized by high serum TSH level, normal or low thyroid hormones, absence of autoantibodies and normal or hypoplasic in situ thyroid gland. It is known that heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance which clinically ranges from isolated hyperthyrotropinemia to non-autoimmune hypothyroidism. Despite this, an absence of mutations in the TSHR gene has been repo...

Background and Aims: Type 1 diabetes mellitus (T1DM) belongs to the most common chronic diseases affecting children and adolescents. Technological advances have improved metabolic control over the past decades, thereby decreasing the risk of long-term complications. However, only a minority of patients meets the treatment goals of maintaining a glycated hemoglobin (HbA1c) level below 7.5% (58 mmol/mol). Webdia is an application for mobile devices developed by the fath...

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 ...

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...

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...

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

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...