ESPE Abstracts

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

Background: Obesity is a metabolic disorder associated with increased PAI-1 levels in the circulation. This increase is related to insulin resistance and cardiovascular disease (CVD). In adults the relationship between plasma PAI-1 levels and the 4G/5G gene polymorphism in the PAI-1 gene has been demonstrated, but few data exist in children.Objective and hypotheses: To assess the relationship between PAI-1 plasma levels and the PAI-1 4G allele gene polym...

Background: Increased frequency of VDD/I has been found in warmer countries over the last years.Objective and hypotheses: To evaluate the response to vitamin D treatment in VDD/I among children and adolescents with type 1 diabetes.Method: Total 25OHvitamin D levels (VDL) were measured in 76 consecutive children and adolescents with type 1 diabetes (36 males, mean age (S.D.) 13.6 (5.09) years, median disease duration ...

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...

Objectives: Menarche is defined as the first menstrual bleeding in females, and the age of onset varies and depends on a complex interaction between genetic and environmental factors. The LIN28B gene single nucleotide polymorphisms (SNPs) rs314276, rs7759938 and rs314280 appear to be associated with cases of premature and early menarche. International databases report that the presence of a G allele of rs314280SNP shifts menarche 1.2 months earlier, a C allele...

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...

Introduction: Diabetic ketoacidosis (DKA) as an inflammatory state combined with the disruption of the normal coagulation cascade can lead patients to an increased risk of thrombosis. Especially, patients that are genetically susceptible to thrombosis could develop deep venous thrombosis (DVT) due to inflammation, dehydration, and hyperviscosity secondarily to DKA. It is noteworthy that children with DKA who underwent central venous catheter placement could develop DVT, especi...

Introduction: Neuropathy, as a complication of type 1 diabetes (T1D), is a heterogeneous group with chronic polyneuropathy being the most frequent form. Acute mononeuropathy is rare and its pathophysiology has not been elucidated.Purpose: To describe acute mononeuropathy during the course of severe ketoacidosis in an 8-year-old girl diagnosed with T1D.Case report: An 8-year old girl was admitted to the Emergency Department because ...

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addison’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...