ESPE Abstracts

Background: Leptin is suggested to be a permissive factor in the onset of puberty by signaling at the level of the hypothalamus to indicate adequate energy stores. Overweight female rats due to increased neonatal nutrition have been shown to develop puberty before normal weight rats.Objective and hypothesis: We hypothesized that this permissive effect may be due not only to increased leptin levels, but also to increased hypothalamic sensitivity to this h...

Background: Childhood obesity is often associated with insulin resistance (IR), which is a key risk factor for the development of comorbidities. The etiologic relation between insulin resistance and obesity is still not completely understood.Objective: In this study a multiplatform metabolomics approach was applied for the first time to elucidate the metabolic alterations in obese children with or without IR. Metabolomics is the revolutionary strategy of...

Background: T3-P-GD, a severe, rare disorder well known in adults, has not previously been described in children. It is characterized by persistently high serum fT3 concentration and normal, or even low, fT4 concentration during drug treatment. This condition is associated with very high titers of TRAb and large goiters, but its pathogenesis remains unclear. The recognition of this form of GD in children is of particular importance, as higher antithyroid ...

Background: Skeletal muscle is the largest tissue involved in the insulin-stimulated disposal of glucose, with its size being controlled by hormonal status, among other factors. Leptin plays a primary role in the regulation of glucose homeostasis with a substantial degree of insulin and leptin cross-talk in muscle. However, the relationship between the leptin’s central effects on insulin sensitivity in muscle and associated structural changes remain unclear.<p class="...

Background: Adequate sick day management at home may reduce the risk of progression to diabetic ketoacidosis (DKA) and admission to hospital. The UK does not have a consensus guideline for sick day management advice to children and young people with type 1 diabetes mellitus (T1DM). Children’s diabetes services vary in their practice of education and advice in the use of urine or blood ketone monitoring during illness.Objective and hypotheses: The ai...

Background: Adrenal Insufficiency (AI) is a heterogeneous diagnosis comprising multiple central and peripheral causes. The unifying feature is the requirement for glucocorticoid replacement and subsequent risk of life-threatening Adrenal Crisis (AC) and Adrenal Death (AD). Very few studies have investigated rates of AD in children. Multiple studies have reported symptoms of children with AC as interpreted by medical staff but no studies have looked at parental...

Background: For adult patients who do not meet indications to surgery, the calcimimetic cinacalcet is approved for primary hyperparathyroidism (HPT), decreasing calcium and parathyroid hormone (PTH) levels. This drug is largely used in adults, but may be a challenge in daily practice in children, because of the risk of hypocalcemia, increased QT interval and drug interactions. A few pediatric cases have highlighted its potential interest in children with HPT; ...

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...