ESPE Abstracts

Introduction: Obesity is the most common nutritional disorder in the paediatric age. Decreased physical activity and increased inactivity are important factors that are involved in this pandemic. The highest prevalence of obesity in Europe is in the South.Objective: To study the relationship between the practice of a regulated sport and lipid profile in overweight children and adolescents.Material and methods: 318 overweight childr...

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

Context: Quality of survival (QoS) is frequently impaired in childhood-onset craniopharyngioma (CP) patients due to sequelae caused by the hypothalamic syndrome. The debate, whether primary hypothalamic involvement (HI) has apriori prognostic impact or surgical hypothalamic lesions (HL) determine outcome, is controversial. Accordingly, we analyzed, whether CP patients at high risk for hypothalamic obesity due to primary HI of anterior and posterior hypothalamic structures bene...

Background: Obesity in adulthood is associated with shorter leukocyte telomere length, a marker of biological age that is also associated with age-related disorders, including cardiovascular disease and type 2 diabetes mellitus.Objective and Hypotheses: To investigate the relation between BMI in childhood and adolescence and telomere length, by determining the mean telomere length of leukocytes.Patients and Method: Seven hundred fo...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

Introduction: The relationship between sports intensity and growth has become a concern in teenagers. Changes in the GH/IGF1 axis have been studied as biomarkers for training intensity in adolescents; however, reports on the effects of physical effort on GH and IGF1 levels are discordant and studies on GH and IGF1 responses in combat sports are scarce.Aim: To investigate the effects of a Jiu-Jitsu training session on serum IGF1 and IGFBP3 concentrations....

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...