ESPE Abstracts

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

Background: Hypophosphatemia due to excess urinary phosphate losses and rachitic bone disease occur in several related disorders. The most common form of the heritable hypophosphatemic disorders, X-linked hypophosphatemia (XLH), is due to loss-of-function mutations of the osteocyte/osteoblast protein, PHEX. Reduced abundance of phosphate transporters on the luminal surface of renal tubular cells in the syngeneic animal model of XLH, and inappropriately normal (or frankly low) ...

Background: Nocturnal hypoglycemia is not regularly predictable on the basis of a bedtime BG level and can only be confirmed by BG tests at regular intervals during the night or continuous glucose monitoring (CGM).Objective and hypotheses: A bedtime snack containing carbohydrate as well as fat and protein may be useful in preventing nocturnal hypoglycemia, but this should not be at the expense of high overnight BG levels. In many individuals, a lowering ...

Background: The Fibroblast Growth Factors (FGFs) are a large family of proteins including paracrine, intracrine, and endocrine FGFs. Paracrine and endocrine FGFs interact with specific cell surface receptors (FGFRs) that, via intracellular tyrosine kinase activity, initiate a cascade of downstream intracellular events. Specificity of paracrine/autocrine FGF activity is provided locally by the local production of these FGFs and their cognate receptors. In contrast, endocrine FG...

Background: SWEET (www.sweet-project.eu) is a non-profit entity endorsed by ISPAD aiming to create an extensive network of certified CoRs for childhood diabetes in order to ensure high quality care.Objective and hypotheses: SWEET aims at an improved and more uniform care for people with diabetes through comparing processes and outcomes among participating members. The results of data analysis are conveyed to memb...

Obesity in childhood is associated to several cardiovascular risk factors summarized in the definition of metabolic syndrome such as hypertension, dyslipidemia and impaired glucose tolerance. Besides others, the pathogenetic background is insulin resistance, which deteriorates in mid puberty and normalizes at end of puberty. Accordingly, blood pressure, lipids, fasting glucose and 2 h glucose in oGTT increased from prepubertal stage to pubertal stage and decreased from puberta...

Type 2 diabetes mellitus (T2DM) is emerging as a new clinical problem within pediatric practice. Recent reports indicate an increasing prevalence of T2DM in children and adolescents around the world in all ethnicities, even if the prevalence of obesity is not increasing any more. There are great differences in T2DM prevalence worldwide. The majority of young people diagnosed with T2DM was found in specific ethnic subgroups such as African-American, Hispanic, Asian/Pacific Isla...

Adolescent obesity has an immense burden of disease and results in premature death due to several mechanisms: The classic cardiovascular risk factors associated with obesity, such as hypertension, dyslipidemia and type 2 diabetes mellitus, lead to cardiovascular diseases and consequently to premature death. Furthermore, adolescent obesity is associated with many life- limiting cancer types occurring 10 to 20 years later replacing smoking as the leading modifiable cause for can...