ESPE Abstracts

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.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized plan of action in the prevention and management of overweight and obesity in childhood and adolescence.Method: 470 children and adolescents (mean age±SEM: 9...

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...

This prospective population study focuses on metabolic differences between adolescent patients with polycystic ovary syndrome (PCOS) and age/BMI matched non-PCOS controls recruited by the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of the First Department of Paediatrics, at the ‘Aghia Sophia’ Children’s Hospital, in Athens, Greece. Bioimpendance is an established non-interventional method for the determination of the body compositio...

Background: The polycystic ovary syndrome (PCOS) is believed to contribute to adverse cardiovascular effects.Aim: The aim of the present study was to investigate the potential alterations in heart rate variability (HRV) pattern in adolescent patients with polycystic ovary syndrome (PCOS).Methods: Nineteen PCOS adolescent patients group (mean age 16.8 ± 3.2 years) and twenty on...

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

Background: Early gain in fat mass (FM) might be influenced by type of feeding. Excessive gain in FM during the first three months of life is associated with an increased risk for adiposity and cardiovascular diseases. This three-month period is also known as the critical window for adiposity programming.Aims: To investigate differences in body composition between exclusively breastfed (BF) and formula fed (FF) infants from birth to 24 months.<p clas...

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

Background: The prevalence of obesity has increased dramatically in Greece in the last two decades, and more than 35% of children and adolescents are currently overweight or obese. Prevention could be the key strategy for controlling the current epidemic of obesity.Objective and hypotheses: Prevention is the main scope of the Program entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood a...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...