ESPE Abstracts

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: Bone development and remodeling are controlled by the phosphoinositid-3-kinase (PI3K) signaling pathway. We investigated the effects of downregulation of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Ost...

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

Introduction: Adolescents are considered the main consumer group of Energy Drinks (EDs). EDs are associated with adverse cardiovascular events, such as severe cardiac arrhythmia or arterial hypertension. Recent studies of our department revealed a significantly increased brachial blood pressure and arterial stiffness after the acute ED consumption in healthy adolescents. Increased central blood pressure is linked with the onset of end-organ damages such as lef...

Background: Thyroid hormones regulate metabolism and play a significant role in cardiovascular homeostasis. However, the association between thyrotropin (TSH), thyroid hormones and cardiometabolic risk factors has not been elucidated in euthyroid children and adolescents with overweight and obesity.Aim: Τo evaluate the relation of TSH and thyroid hormones with cardiometabolic parameters in euthyroid obese, overweight...

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...