ESPE Abstracts

Background: Diabetics have an increased risk of cardiovascular disease. In young adults with type 1 diabetes mellitus (T1DM), cardiovascular events are more often the cause of premature death than nephropathy. In pediatric T1DM population, 35% have 2 or more cardiovascular risk factors (cvRF).Objective and hypotheses: This study aimed to determine the prevalence of traditional cvRF in children and adolescents with T1DM, and their association with the deg...

Background: Type 1 diabetes is one of the most common chronic disease in pediatric age. The incidence is increasing worldwide, with significant variations between countries. In Portugal, the prevalence in pediatric age is about 0.16%.Objective and hypotheses: This study aims to characterize a pediatric population with type 1 diabetes and to identify factors influencing the metabolic control.Method: Retrospective analysis of childre...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...

Background: Type 1 diabetes mellitus (T1DM) is the second most frequent chronic disease in childhood and adolescence. Chronic hyperglycemia is responsible for numerous long term complications, not only microvascular (retinopathy, nephropathy and neuropathy), but also macrovascular (ischemic cardiopathy, cerebrovascular disease and peripheral vascular disease). On the other hand, the T1DM immune modification is responsible for an increased incidence of other autoimmune diseases...

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...

Background: Studies in young mammals on the qualitative and quantitative molecular effects of food restriction (RES) and re-feeding, leading to catch up growth (CU) are scarce. Whereas RES may lead to growth and developmental deficits in children, it is a proven treatment to prolong life in all animals checked.Objective and hypotheses: We used MS analysis to understand how RES might lead to growth attenuation and prolonged life span and identify the majo...