ESPE Abstracts

Background: In type 1 diabetes (T1D), the pancreatic βcells are selectively destroyed by the immune system resulting in absolute insulin deficiency. It has been long established that approximately half of the genetic risk for T1D is conferred by genetic loci associated with β-cell function, apoptosis, and regeneration.Aim: We report the case of a 6- year-old boy with new onset type T1D, and identified genetic l...

Objective: Premature ovarian insufficiency (POI) is rare in adolescents, most commonly caused by genetic defects or cytotoxic therapy. The aim is to present the case of an adolescent girl with normal pubertal progress and irregular menstrual cycle, followed by amenorrhea.Case presentation: A 15 9/12-years-old girl presented because of lack of menses for the previous 21 months. She reported that she had menarche at the ag...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In Greece, more than 30–35% of children and adolescents are overweight or obese.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized multidisciplinary management plan in reducing the prevalence of overweight and obesity in childhoo...

Background: Obesity in adolescence represents a major health problem of our century owing to its epidemic proportions and the associated morbidity and mortality in adult life. In Greece, 41% of adolescents are overweight or obese.Aim: The aim of our study was to investigate the effectiveness of a comprehensive, multidisciplinary, personalized management plan at reducing the prevalence of overweight and obesity in adolesc...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

Introduction: Maternal perinatal mental disorders (PMDs) are associated with developmental and behavioral problems in the offspring, probably mediated by the programming of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis. Increased or decreased cortisol concentrations during pregnancy and the perinatal period have been associated with alterations in the stress responses of the offspring and with child behavioral problems; however, such associations remain unclear.<p ...

Introduction: Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a well-established genetic locus of type 1 diabetes (T1D). The aim of the present study is to compare the methylation level of PTPN22 between children and adolescents of Greek origin with T1D and healthy controls.Patients and Methods: Twenty T1D participants and 20 age-/gender-matched healthy youngsters were enrolled. DNA was extracted from white blood cells, the...

Background: Pediatric hypertension is a risk factor for adult hypertension and cardiovascular disease which entails the necessity of early detection.Aim: To investigate how nutrition habits are correlated with systolic blood pressure (SBP) in health children and adolescent population.Methods: 1395 children and adolescents from Greece were enrolled to participate in the research. A specially designed questionnaire regarding to eatin...

Objective: To report the incidence of thyroid dysfunction of patients who underwent allogenic BMT during childhood.Patients and Methods: Eighty-two patients (56 boys) who were transplanted from an HLA matched donor at a mean age of 7.5±4.8 years (range 0.18–17.5 years) were followed prospectively having measurements of fT4, TSH twice yearly, using chemiluminescence. Patients with elevated TSH higher than 8 μIU/ml had a repeat evaluation in...