ESPE Abstracts

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

Aim: Recent studies have shown that the first hour glucose concentration of ≥155 mg / dL in the oral glucose tolerance test (OGTT) in adults with normal glucose tolerance (NGT) may be a strong marker for the development of diabetes, and also an increase in subclinical inflammation, insulin resistance, dyslipidemia and serum transaminases. These results indicate that adults with NGT have increased risk of developing cardiovascular disease and non-alcoholi...

Introduction: One of the factors affecting the treatment decision in early puberty is bone age (BA) evaluation and adult height prediction (AHP), accordingly. These calculations have certain limitations. In this study, we aimed to compare the AHP results calculated by Bayley-Pinneau (BP) and Roche-Wainer-Thissen(RWT) methods based on BA evaluation by using Greulich-Pyle(GP) atlas and BoneXpert™ software.Methods: A t...

It is noted that patients with heart disease (HD) are likely to develop abnormal glucose metabolism and this metabolic deterioration usually occurs after middle age. However, we recently had two patients with congenital HD, who developed type 2 diabetes mellitus (DM) in their adolescence.The first patient underwent Fontan operation at 2 years of age for single ventricle and pulmonary atresia. His paternal grandfather had type 2 DM. He noticed polydipsia and polyuria at 15 year...

Background: The prevalence of childhood obesity is dramatically increasing worldwide. Overweight and obesity are well known risk factors for metabolic disorders such as Insulin Resistance, Type II Diabetes, Arterial Hypertension and Non Alcoholic Fatty Liver Disease (NAFLD).Aims: This study was conducted to assess the prevalence of Hypertriglyceridemic Waist phenotype (HTGW) among overweight and obese Greek children. Fur...

Background and Aim: Vitamin D plays a crucial role in skeletal and extra-skeletal physiology. It is essential for growth, development and health. It works as a paracrine and autocrine signaling molecule that affects nearly all systems in the body. Vitamin D deficiency (VDD) is prevalent in many countries in all age groups, and may be overlooked due to the variable clinical presentations according to age. This study was conducted to assess vitamin D status amon...

Objective: β-thalassemia major is an autosomal recessive hemoglobinopathy that needs to blood transfusion for the survival of patients with β-thalassemia. Iron overload as a side effect of transfusion causes some endocrine deficiency in these patients. The injectable iron chelators as an only treatment in the past lead to painful among patients. At present, use of oral iron chelator and increase in patients’ compliance has been successful....

Aim: To determine the sensitivity, specificity of basal LH measurement compared to the GnRH test in patients with Central precocious puberty (CPP) and determine the cut off point for basal LH to diagnose CPP.Methods: 680 female patients were referred for presumptive diagnosis of central precocious puberty in the city of Bogota. All patients went through a GnRH test, using a Roche immunoassay for Luteinizing hormone (LH) and follicle stimulating hormone (...