ESPE Abstracts

Abstract Withdrawn...

Introduction: Glucose sensors are medical devices used in glycaemic control of patients with type 1 diabetes (T1D) . Its use prevents multiple capillary measurements, improving disease control and quality of life. However, these systems are not exempt from unforeseen events. The rise in the number of users has resulted in the increasing detection of local skin reactions by these devices, being the most frequent the eczematous ones, which may correspond to irri...

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

Up to 50% of children born SGA to 2 years have not made a proper catch up (by excess or defect), with repercussions in size, metabolic and cardiovascular disorders, DM, etc. epiPEG-PreMeb project to study during their first two years of life.Goals:: Establish a SGAcohort for monitoring, evaluation catch-up, and analysis of medium-environmental and social factors. To study the influence of these variables on clinical, laboratory and metabolic profiles. So...

Background: SGA cohort study in analytical and metabolic variables at 3 and 12 months of age with somatométrica situation.Material and methods: Live births in singleton pregnancies in our hospital during 2012–2014, PEG were studied according EG and weight/height (Spanish Tablas 2008). Tours are conducted at 0, 3, 6, 9, 12 months, with measurements of weight, height and perimeter. Blood samples are obtained at least fasting discussed 4h and exce...

Background: Cohort SGA in North of Spain – EPIPEG.Objective and hypotheses: Establish a SGA cohort for monitoring, assessment catch-up, and analysis of middle-environmental and social factors.Method: We study live births in singleton pregnancies in our hospital during 2012–2014, and are classified according age gestation (EG) and weight/height (Spanish growth 2008). Visits were made at 0, 3, 6, 9, 12 months, with measurem...

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

Introduction and aims: Obesity is often associated with elevated insulin levels and resistance to insulin action (IR). Insulin regulates the lipid metabolism. In overweight children, IR may well play a greater role than obesity in the development of lipid alterations. This study sought to ascertain whether there was any difference in lipid levels between obese and non-obese children, and to test for correlations between IR markers and BMI.Patients and me...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...