ESPE Abstracts

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: The phosphatase and tensin homolog (PTEN)/phosphatidylinositol-3-kinase (PI3K)/AKT signaling pathway is central for cell cycle control, differentiation, migration, and metabolism. Unrestricted growth of adipose tissue in particular is frequently seen in humans with germline PTEN and mosaic activating PIK3CA mutations, respectively.Objective and hypotheses: We assume that adipocytes from affected tissue show hyperproliferation and modified dif...

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Background: Diencephalic syndrome (DS) is a rare disorder of severe emaciation classically associated with infantile Hypothalamochiasmatic low-grade gliomas (HCLGGs) and GH excess. However, diagnostic criteria remain undefined and published literature includes non-specific tumour-related cachexia. In a large optic pathway LGG cohort (n=166), we have previously demonstrated that DS independently predicts multiple tumour progressions and severe endocrine morbidity.<...

Background: The ECOS observational study in Spain (NCT01376921) aims to evaluate adherence to r-hGH therapy prescribed via the easypod™ electromechanical auto-injector device and to analyse factors that may influence adherence in paediatric patients. Easypod™ administers pre-set doses of Saizen® r-hGH and stores accurate records of each dose and injection taken, which can then be shared with the HCP for evaluation of the patient’s adherence.<...

Background: Use of recombinant human growth hormone (somatropin) is recommended for children with growth hormone deficiency (GHD) to normalize adult height and avoid extreme short stature. Prior research conducted among small study samples, across different study populations and health care systems, has suggested an association between adherence to somatropin and clinical outcomes, including height velocity. There is a need for further research, using real-wor...

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

Introduction: Thyroid nodules are uncommon in the paediatric population, present in 5% of children but 35% of adults. However, up to 25% of paediatric nodules are malignant, compared to 5% in adults. It can be challenging to differentiate malignant nodularity from benign clinically, particularly in the presence of a thyroid disorder. We present two contrasting cases of adolescent girls with solitary thyroid nodules.Case 1: A 13-year-old girl was referred...