ESPE Abstracts

Introduction: Type 1 diabetes (T1DM) is an autoimmune disease with abnormal immune responses to specific β-cell autoantigens, resulting in insulin deficiency. Children and adolescents with T1DM may also develop organ-specific autoimmunity. The most frequently reported disorders are thyroid dysfunction and celiac disease. There are limited previous studies on the prevalence of associated autoimmunity, especially multiple, in children with T1DM.Aim: T...

Studies support the existence of a genetic contribution to both type 1 and type 2 diabetes, and additionally suggest a relationship between both types of diabetes. The rapidly growing worldwide epidemic of type 2 diabetes has been partially explained by obesity and the sedentary lifestyle. However, familial factors also seem to play a major role in the pathogenesis of type 2 diabetes.). The fact that type 1 and type 2 diabetes cluster in families suggests that some patients ma...

Background: Diabetic nephropathy is a major microvascular complication of diabetes. It affects 25–35% of diabetic patients diagnosed under the age of 30 years. It is the leading cause of premature death in young diabetic patients.Objective and hypotheses: This study was primary designed to assess the short-term effect (6 months) of allopurinol treatment compared to angiotensin-converting enzyme inhibitor (ACEI) and placebo in type 1 diabetic patient...

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

Background: Diabetic nephropathy is a major cause of morbidity and mortality among young adults with type 1 diabetes mellitus. Strong evidence exists in multiple studies for genetic predisposition of diabetic nephropathy. Genetic studies have revealed that the genes for the renin–angiotensin system (RAS) are highly polymorphic, one of such is insertion/deletion polymorphism in ACE gene. This polymorphism was associated with the circulating ACE level and increased plasma a...

Background: Sleep quality, ghrelin hormone and obesity are associated with metabolic syndrome.Objective and hypotheses: To study associations between sleep duration, level of ghrelin and obesity in children and adolescents.Method: A prospective study was conducted on 50 children (their mean age: 8.7±3.2 years) with simple exogenous obesity (BMI SDS >2) recruited from Diabetes Endocrine and Metabolism Pediatric Unit, Childr...

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...

Background: Ghrelin is 28-amino acid peptide predominantly produced by the stomach and have an orexigenic property as well as potent GH-releasing activity. Acylated ghrelin (AG) is the active form of this hormone. Obestatin is a 23-amino acid peptide, is produced by post-translational modification of a protein precursor that also produces ghrelin. Obestatin has the opposite effect of ghrelin on food intake.Objective and hypotheses: To evaluate acylated g...

Objective: To determine the influence of adolescent girls with type 1 DM on circulating levels of adiponectin and to study the relation between adiponectin level with glycemic control and complication of diabetes.Patients and methods: The study included 40 female adolescent type 1 diabetic patients and 40 healthy volunteer of the same age and sex. Blood sample was taken for assessment of glycosylated haemoglobin, lipid profile and adiponectine. Urine sam...