ESPE Abstracts

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

Objective: To assess health-related quality of life (HRQOL) in a cohort of children and adolescents with type 1 Diabetes (T1DM) and its associated factors.Methods: This was a descriptive study of 136 patients with T1DM from five hospitals in Catalonia, Spain (72 girls, mean age 13.4 years (range 8–19). Inclusion criteria were more than 6 months from diagnosis, more than 8 years old and without cognitive problems. Sociodemographic (age, sex, family l...

Background: Waist circumference (WC) reflects the fat distribution and the degree of central adiposity in children, which is specifically associated with cardiovascular risk factors and useful as a component of metabolic syndrome definition in children.Objective and hypotheses: To evaluate the distribution of WC measures among preschool children aged 3.5–5.5 years from six European countries.Method: Cross-sectional study of a ...

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Background: Childhood obesity is a serious health problem, related to an increased risk of adult morbidity and mortality. Evidence indicates that central adiposity increases this risk to a higher degree compared to the general obesity indices.Objective and hypotheses: To evaluate the distribution of anthropometric obesity indices among preschool children aged 3.5–5.5 years, from six European countries, and to examine their associations with certain ...

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...