ESPE Abstracts

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

Introduction: Compelling evidence suggests that Primary Aldosteronism (PA) is much more prevalent than previously thought, accounting for more than 20% of patients with resistant hypertension. Although, major advances have been made in the field of genetics underpinning sporadic and familial forms of PA, the etiology of mild forms of PA is poorly understood. In previous studies, we identified a distinct cohort of patients without PA who exhibited ACTH-dependen...

Background: The prevalence of childhood obesity has recently increased, particularly during the COVID-19 pandemic, which has led to lifestyle changes as a result of public health regulations and guidelines introduced by governments worldwide.Objective: To investigate the effectiveness of novel e-Health applications in addressing childhood obesity prior to and during the Covid-19 outbreak.Pa...

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...

Background: Obesity in childhood and adolescence represents a major health problem of our century that has reached epidemic proportions globally during the last decades. In obese subjects, a relatively high cortisol output in urine has been observed compared to nonobese individuals. However, cortisol concentrations in blood, saliva, and urine in association with obesity have not been consistent across studies. Hair cortisol concentrations (HCC) determined in scalp hair provide...

Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune...

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...