ESPE Abstracts

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) ...

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

CRN04777 is an orally administered nonpeptide that is a potent and selective agonist of somatostatin 5 (SST5) receptors and is currently under development for the treatment of congenital hyperinsulinism (HI), the most common cause of persistent hypoglycemia in newborns and infants. Congenital HI arises from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet beta cells. This excess insulin ...

Introduction: Until recently, bariatric surgery (BS) has been the only option for clinically meaningful weight reduction for adolescents and youth with extreme obesity. Low participation rate in follow-up examinations and low supplement intake after BS in adolescents has been described in literature (PMID: 24048144, 25078533). We developed a structured pre- and post-bariatric surgery program in order to improve follow-up rate and supplement intake in adolescen...

Background and Objective: Continuous Glucose Monitoring (CGM) is gaining in popularity for patients with paediatric hypoglycaemia disorders such as Congenital Hyperinsulinism (CHI), but no standard measures of accuracy or associated clinical risk are available. A small number of studies have shown suboptimal accuracy of CGM in CHI but assessments have been inconsistent, incomplete and offer no measure of clinical application. Error grids that categorise clinic...

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

Therapeutic interventions in obesity in addition to the weight loss, seek to improve the profile of cytokines. It is believed that physical activity, even in the absence of significant weight loss, may favorably increase the concentration of irisin and decrease the concentration of chemerin. The aim of the study was to compare the impact of a standard lifestyle intervention (SI) with an intense intervention (II) including controlled increase of daily physical ...

Background: The use of antipsychotic medication in medical practice is increasing in Europe. Antipsychotics have serious adverse effects like weight gain.Objective: Aim was to explore metabolic risk factors and glycaemic control in youths with type 1 diabetes treated with typical or atypical antipsychotics.Design and methods: Data of children, adolescents, and young adults with type 1 diabetes up to the age of 25 years and with dia...

Background and aims: Little is known about the incidence and clinical consequences of hyperthyroidism in paediatric patients with type 1 diabetes mellitus (T1DM).Methods: We analysed the DPV database to investigate the rate of hyperthyroidism in paediatric T1DM patients, its impact on metabolic control, and potential associations with other autoimmune diseases.Results: Hyperthyroidism was found in 276/60,456 patients (0.46%) and wa...

Background: Over the last two decades, treatment of type 1 diabetes became more intensified and changes in the type of insulin used were reported.Objective and hypotheses: We hypothesised that there are also changes in insulin dosage and in the ratio of prandial to basal insulin. Our aim was to analyse potential trends in paediatric subjects with type 1 diabetes from Austria and Germany between 2000 and 2014.Method: 50 861 subjects...