ESPE Abstracts

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

Introduction: Aromatase inhibitors (AIs) are increasingly used in children and adolescents to augment adult height. Given the potential risks of these drugs in women with breast cancer, detailed cardiovascular examinations in adolescents using these treatments are needed to ensure their safety in the pediatric group. The aim of this study was to investigate the effects AIs on cardiac morphology, functions and their relation to several metabolic parameters in a...

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

Introduction: Many evidences confirmed that hyperuricemia is connected with obesity, insulin resistance, type 2 diabetes and cardiovascular risk, not only among adults. Uric acid (UA) interacts with other factors in the modulation of obesity and its complications, since childhood. The study aims to identify any correlations between AU plasma concentrations and the clinical/laboratory data of a group of obese Italian children living in the province of Salerno, ...

Influence of anthropometric indices at birth on obesity characteristics in school-age children Latyshev D. Yu., Lobanov Yu. F.? Latyshev O. Yu. *, Karkova T.A. Altai State Medical University, Barnaul * Russian Medical Academy of Postgraduate Education. Moscow Keywords: obesity, children, body length, body mass index Objective: To study the relationship between anthropometric data at birth and the course of obesity in school-age children. Materials and metho...

Introduction: Patients with type 1 diabetes (T1D) are at high risk of developing vascular complications. Endothelial dysfunction is considered the early reversible stage in the development of diabetes related vascular disease. Early detection and management of endothelial dysfunction can delay or even prevent the development of vascular complications.Aim: Endothelial dysfunction is associated with poor metabolic control in adolescents with T1D. Based on ...

Background: IGF1 is important for fetal and infant growth and is influenced by nutrition. In young pigs, docosahexaenoic acid (DHA)-enriched food is associated with higher IGF1 levels but studies in human infants are lacking.Aims and objectives: To assess levels of polyunsaturated fatty acids (PUFA) relate to IGF1, birth size and growth during infancy.Methods: The setting was a population-based longitudinal cohort comprising 126 fu...

Introduction: Obesity is considered one of the most common chronic diseases worldwide which is associated with chronic, low-grade, sterile inflammation. It leads to variable changes in metabolic and hormonal homeostasis. The aim of our study was to evaluate the impact of obesity associated chronic inflammation on peripheral complete blood count alterations.Material and Methods: 27 overweight/obese and 15 normal-weight ch...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...