ESPE Abstracts

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

Background and Aims: The treatment of type 1 diabetes (T1D) requires a great involvement of the patient to achieve optimal blood glucose levels. Technological devices have been developed for individualized treatment, fewer interventions of the patient, and evidence of improved metabolic control. The aim of the study is to know data on metabolic control in a group of pediatric patients with T1D treated with new technologies, compared to patients treated with mu...

Objective: Type 2 Diabetes Mellitus(T2DM)and obesity represent two major health hazards in children and adolescents, with rising prevalence. Several markers have been developed in order to diagnose T2DM and detect potential metabolic abnormalities.The objective of the study was to examine glucose tolerance in Greek children and adolescents and the differences in the glucose, insulin and c-peptide response curves between male and female children and adolescents...

Introduction: A positive correlation between the onset of T1DM and winter has been suggested by studies conducted in different countries.Objective: To investigate the seasonal variation of T1DM diagnosis and additional epidemiological parameters in children from Western Greece diagnosed with T1DM.Methods: 105 patients, 44 males and 61 females, aged 1 to 16 years (mean: 8.2±4 y...

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

Introduction: To optimal glycemic control without hypoglycemia must be the aim of insulin treatment for all patients with type 1 diabetes (T1DM). Despite the advantages of the basal-bolus insulin regimens with MDI, hypoglycemia presents a major barrier in achieving desirable blood glucose levels. Degludec is a new basal insulin analog with longer half-life and lower variability.Objetive: To investigate the differences between long-acting insulins glargin...

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 (...

Steroidogenic factor-1 (SF1), encoded by plays a central role in sex development, steroidogenesis, and reproduction in both males and females. NR5A1 mutations have been described in a diverse spectrum of disorders of sex development (DSD). We report on a case of XY Partial Gonadal Dysgenesis with paternal inheritance of a NR5A1 variant. A 17-year-old girl was referred to us due to primary amenorrhea and absence of secondary female sex characteristics. She was...