ESPE Abstracts

Background: The parallel increase in prevalence of asthma and obesity in childhood has led to an increasing body of evidence about a possible link between the two conditions.Objective and hypotheses: To assess the prevalence of asthma symptoms in a representative sample of Greek schoolchildren and to evaluate its association with overweight/obesity as well as other socioeconomic, demographic and lifestyle factors.Method: This is a ...

Background: Thyroid diseases rank first in endocrine pathology among children with the iodine deficiency disorder (IDD) being the significant part.Objective and hypotheses: To study the frequency of thyroid pathology in view of the results of the profound preventive medical check-up of 14-year-old teenagers of Krasnodar.Method: We examined 578 adolescents (301 boys and 277 girls). All adolescents were examined by an endocrinologist...

Background: Type 1 Diabetes Mellitus (T1DM) often coexists with other autoimmune diseases, either individually or as a part of polyendocrine syndrome (APS I-III). It is frequently associated with autoimmune thyroid, celiac, gastric and Addison’s disease. In the families with T1DM patients frequently coexist different autoimmune diseases (familial autoimmunity).Objective and hypotheses: Evaluating the frequency of associated and familial autoimmunity...

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Background: Several studies have correlated Assisted Reproduction Technologies (ART) including classic IVF and Intacytoplasmic Sperm Injection (ICSI) with epigenetic alterations in the offspring that could have long lasting unfavorable metabolic effects. Proteomics, a state-of-the-art technology used for the identification of early biomarkers of disease, has already been implemented in the search of success in ART but not yet for such markers evaluation in offspring of ART.</p...

Background: Vitamin D deficiency has been associated with left ventricular geometry and hypertrophy and larger end-systolic diameters and worse left ventricular function in animals and humans.Objective and hypotheses: The aim of this study was to investigate any possible association between vitamin D levels and geometry of left ventricle (LV) in youngsters with type 1 diabetes mellitus (T1DM).Method: 58 youngsters with T1DM with me...

Background/Aim: Leucocyte telomere length (LTL) is a robust marker of biological aging and is associated with obesity and cardiometabolic risk factors even in childhood and adolescence. The aim of the present study was to assess the effect of a structured, comprehensive, multidisciplinary, personalized, lifestyle intervention program of healthy diet and physical exercise on LTL in children and adolescents with overweight and obese.Materi...