ESPE Abstracts

Introduction: Continuous Glucose Monitoring Systems(CGM), including real-time(rtCGM) or intermittently Ssanned CGM(isCGM, flash technology) are evolving technologies that can help both healthcare professionals and families to improve glycaemic control in children and adolescents with diabetes mellitus. The technology offers the possibility of monitoring glucose in real time or on demand through the interstitial fluid, contributing to the improvement of glycaem...

Introduction: Familial hypercholesterolaemia(FH) is a genetic disorder affecting approximately 1 in 250 people, resulting in high levels of low-density lipoprotein Cholesterol(LDL-C), increasing the likelihood of developing cardiovascular disease(CVD) at a younger age. Lipoprotein (a)(Lp(a)) is another risk factor for atherosclerosis, elevated in 20-25% of people and 90% genetically determined, only slightly reduced by diet, exercise and medication.<p clas...

Introduction: Type 1 Diabetes(T1) and autoimmune thyroid disease(AITD) can occur concomitantly. Multiple sclerosis(MS), a chronic condition resulting from dysfunction of the immune system, may co-occur with T1D.Aim: We present a 17-year-old boy presented with AITD at 10y old and within seven years developed T1D and MS.Subjects and methods: The patient presented at the age of 10y ol...

Introduction: Children with positive familiar history (FH) of cardiovascular disease (CVD), consist a subpopulation in higher risk for early life cardiovascular events. Obesity represents a major risk factor for coronary heart disease and premature death. Recently published studies integrate high levels of lipoprotein (a) (Lp(a)) into the group of cardiovascular risk factors. According to the Bogalusa study, increased levels of Lp(a) (>30 mg/dl) are associated with cardiov...

Introduction: Thyroid stimulating hormone (TSH) abnormalities are a frequent laboratory test finding, which may hinder thyroid dysfunction. One of the most accurate laboratory methods for testing thyroid function (TFTs) is the radioimmunoassay (RIA) method. RIA is an immunoassay that uses radiolabelled molecules in a stepwise formation of immune complexes. It is a very sensitive in vitro assay technique used to measure concentration...

Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.<p ...

Introduction: Congenital hyperinsulinism(CHI) is a rare complex disorder of hypoglycaemia attributable to inappropriate and dysregulated insulin secretion from the pancreas with an incidence of 1:50 000(1:2500 in consanguineous populations). Genetics involves defects mainly in the KATP channel genes ABCC8 and KCNJ11.Aim: We describe a male infant, presented with refractory hypoglycaemia the first week of life.<p clas...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...

Background: The prevalence of childhood obesity is high worldwide and predisposes to adult obesity and metabolic disorders. Many dietary approaches have been proposed to reduce this prevalence, but no single diet has proven to be superior to others in terms of long-term weight loss maintenance in children.Objective and hypotheses: To evaluate and compare long-term body weight changes among obese children and adolescents who had lost at least 10% of their...