ESPE Abstracts

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.<...

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

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...