ESPE Abstracts

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...

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...

Introduction: Germline mutations in Phosphatase and tensin homolog (PTEN) gene (chromosome 10q23) lead to PTEN Hamartoma Tumor Syndrome (PHTS), which includes Cowden syndrome. PTEN encodes a tumor suppressor protein that is a negative regulator of PI3K – Akt signaling pathway, taking part in multiple biological processes, including cellular cycle and regulation of metabolism.Materials and Methods:...

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...

Background: Maturity onset Diabetes of the young (MODY) is a rare form of diabetes with specific features that distinguish it from diabetes mellitus type 1 (DM1) or type 2 (Dm2). Research studies suggest that 5% of subjects diagnosed with diabetes before the age of 45 years have MODY, with 80% of them having been incorrectly diagnosed as having DM1 or Dm2. Genetic testing my enable correct diagnosis and treatment, optimize glycemic contro...

Introduction: HNF1B gene (OMIM*189907) encodes the transcription factor HNF1B, which is expressed early in embryogenesis, controls gene expression and is involved in multiple tissue and organ development. Mutations of HNF1B account for a complex disorder with multisystemic manifestations (Renal Cysts and Diabetes syndrome, OMIM #137920). Congenital urinary tract abnormalities and HNF1B MODY, a rare cause of diabetes mellitus (DM) (≤5% of M...

Introduction: Childhood obesity is one of the most challenging contemporary public health problems. Children and adolescents with obesity experience multiple psychosocial difficulties, such as low self-esteem, depression, anxiety, and behavioral problems. Psychosocial problems noted in youngsters with excess adiposity persist for a long time. The aim of our study was to assess mental health symptoms in overweight and obese children and adolescents before and a...

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: Childhood obesity has reached epidemic proportions in contemporary societies with multiple comorbidities. Social stigma, low self-esteem, depression, anxiety, and behavioral problems are noted in youth with excess adiposity, and may persist for a long time. The aim of our study was to assess the alterations in cardiometabolic risk factors and mental health in children and adolescents with excess adiposity following the implementation of a multidi...

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...