ESPE Abstracts

The study was aimed at assessing the relationship between increased titers of intercellular adhesion molecules ICAM VCAM in order to assess the risk of developing vascular lesions in children with type 1 diabetesIntroduction: COVID-19 induces a systemic inflammatory response, including dysregulation and misexpression of many inflammatory cytokines [1]. Inflammatory cell recruitment and activation depends on the expression of many classes...

Background: Obesity and a thicker layer of subcutaneous adipose tissue are more common in Turner syndrome (TS), however, it is assumed that growth hormone (GH) treatment has beneficial effect on their body composition (BC). Objective: To investigate the effect of GH therapy on BC and its relation with metabolic syndrome components in girls with TS during a 10 year-follow-up.Patients and Methods: 21 girls with TS were des...

Background: Disorders in carbohydrate and lipid metabolism are more common in girls with Turner syndrome (TS) than in general population. Metabolic disorders have been identified as risk factors for the development of cardiovascular diseases. Additionally, TS patients are usually treated many years with growth hormone (GH) that affects the parameters of carbohydrate-lipid metabolism. Therefore cardiovascular risk factors should be monitored in TS girls.<p ...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: T...

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

Background: Metabolic and hemodynamic obesity-related disorders are a major risk factor for cardiovascular disease in children with excess body fat mass. Studies in adults suggest that serum homocysteine is a marker of atherosclerosis and is associated with vascular dysfunction. Studies in children are inconclusive. The aim of the study was to evaluate the association between homocysteine concentrations and lipid and carbohydrate metabolism parameters in obese...

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...