ESPE Abstracts

Background: Adolescence represents a period of one’s life when profound mental and physiological adjustment take place marking the transition to adult life. Obesity is a common health issue amongst Greek adolescents often following an obese childhood.Objective and hypotheses: We intended to assess the dietary, lifestyle, and metabolic profile of adolescents followed at the outpatient clinic of our hospital.Methods: 253 adolesc...

Background: 17a-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia (CAH). 46,XY infants may present with ambiguous genitalia. Adrenal crises are rare due to compensatory glucocorticoid action of the overproduced corticosterone.Case: A 3-month-old boy underwent a complication-free externalization of concealed penis and circumcision by a paediatric surgeon. At the age of 2.5 years, the boy...

Background and Aims: Despite intensive insulin treatment of type 1 diabetes (T1DM), metabolic control remains suboptimal, especially in children. In an attempt to optimize postprandial glycaemia, some families decrease the amount of carbohydrates contained in a meal. While "low-carbohydrate diets" may improve metabolic control in some selected populations, controversies remain around the risk of hypoglycemia and ketoacidosis and the impact of such diet...

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

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: Hashimoto Thyroiditis (HT) and Graves Disease (GD) are conditions known to be caused by abnormal immune response against self-tissues. The biological processes at molecular lever are still poorly understood. A few epigenetic studies have been published so far.Objective: To investigate whether there are differences in DNA methylation within the HLADRB1, CD40L, FOXP3, CTLA4, FCRL3, IL2RA and PTPN22 promoters between young patients with autoimmu...

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...