ESPE Abstracts

Objectives: Osteogenesis imperfecta (OI) is a skeletal dysplasia affecting 1–2 individuals per 20,000 live births, but the burden of disease in children and adolescents remains unclear. We assessed the clinical and healthcare resource utilization (HCRU) burden of OI in US clinical practice.Methods: This retrospective cohort study included children and adolescents (aged ≤19 years) with OI (≥1 inpatient claim, ...

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

Introduction: The prevalence of celiac disease is 5–10 times higher in patients with type 1 diabetes mellitus (DM) than in the general population. Therefore, celiac serology should be screened intermittently in type 1 DM patients. However, anti-tissue transglutaminase (anti-TTG) antibody elevation may be detected incidentally at the time of type 1 DM diagnosis and regress spontaneously during follow-up, without medical or dietary interventions.<p clas...

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...

Objective: Initiation of continuous subcutaneous insulin therapy (CSII) requires an appropriate basal rate profile. Although different approaches exist; there is a lack of evidence-based recommendations, especially in young children. Our aim was to show how the % of basal rates change at the end of first year of therapy when basal rates are equally distributed at the start of therapy.Materials and Methods: In this survey, 129 CSII patients were analyzed....

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...