ESPE Abstracts

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

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...

Introduction: Familial hypercholesterolaemia (FH) is a frequent (1:300) autosomal dominantly inherited condition which causes premature cardio–cerebrovascular disease (CVD). Early detection and treatment can prevent the development of CVD and premature death. Our pilot study aimed to investigate the feasibility and efficacy of a screening based on a capillary blood test performed during a school medicine visit.Methods:</str...

Background: The Study and Collection of Observational data for Patients with easypod® Connect (SCOPE) French retrospective study follows children with growth disorders treated with recombinant human growth hormone (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from the SCOPE study analysing the adherence to r-hGH therapy in a real-world setting and its effec...

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

Background: Early treatment of neonatal diabetes with sulfonylureas has shown to improve neurodevelopment, beyond the demonstrated efficacy on glycemic control. Several barriers still prevent its use as an early treatment in preterm babies including the limited availability of a suitable galenic form of glibenclamide. Recently, an oral suspension of glibenclamide (Amglidia®) has been approved for use in EU.Methods: W...

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...