ESPE Abstracts

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

Introduction: GLP-1 receptor agonists (GLP1A) have been shown to be effective in achieving weight loss in adolescents with obesity and improve glycaemic control in type 2 diabetes mellitus (T2DM). We aimed to investigate the glycaemic alterations and satiety levels in patients treated with the GLP1A, liraglutide. To the best of our knowledge, this is the first study of its kind.Methods: In total, 22 patients managed in a...

Introduction: Childhood obesity is a growing concern worldwide, and it has been linked to several nutritional and genetic factors. In some patients, monogenic causes can be identified, which are due to single gene mutations in specific pathways related to appetite regulation. One of the most common monogenic causes of obesity is heterozygous mutations in Melanocortin 4 receptor (MC4R), with a prevalence ranging from 2% to 6% in juvenile-onset obesity. We repor...

Background: The mechanisms responsible for inappropriate insulin release from β-cells in congenital hyperinsulinism in infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects is the same in diffuse- and focal disease.Objective and hypotheses: To define the ultrastruct...

Background: Congenital hyperinsulinism of infancy (CHI) mainly arises from loss-of-function mutations in the KATP channel genes. As a consequence, insulin release is uncontrolled and causes persistent or recurrent episodes of hypoglycaemia in neonates. In patients with diffuse-CHI (CHI-D) increased rates of cell proliferation has been reported, but the causes of proliferation are unknown.Objective/Hypotheses: To assess the extent of cell proliferation an...

Aim: The transition from pediatric to adult care is characterized by inadequate medical follow-up, poor self-management, and higher risk for adverse outcomes. We aimed to determine whether self-efficacy, transition readiness or diabetes distress are associated with glycemic control (HbA1c) among adolescents with T1D during the transition period.Methods: Cross-sectional study of adolescents (ages 17 years) with T1D follow...

Puberty is a critical period for the development and acceleration of vascular complications in Type 1 diabetes (T1D). We have shown that metformin in addition to insulin improves vascular smooth muscle function and HbA1c in T1D children over 12 months (1). We aimed to determine if children with T1D who received metformin in a randomized controlled trial (RCT) [Trial registration ACTRN126110001148976] have a sustained vascular function improvement 3 years after ceasing metformi...

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

Introduction: People’s weight-related behaviors may be influenced by their personal social network (SN), notably via family and friends’ behavioral modelling and motivational social support (SS).Objective: We examined the cross-sectional relation between social network-based social support (SS) and weight-related outcomes among adolescents ina pilot study within the QUALITY cohort, a longitudinal study investigating the natural...

Objectives: Current safety data do not indicate an association of GH therapy with increased risk for development/progression of tumours, or worsening of congenital cardiac conditions in individuals with Noonan syndrome (NS); however, data are limited. This report describes real-world safety data on GH therapy in paediatric patients with NS.Methods: Two complementary non-interventional, multicentre studies, NordiNet IOS (NCT00960128) and ANSWER Program (N...