ESPE Abstracts

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

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...

Background: Obesity in childhood and adolescence has reached epidemic proportions. Endothelial dysfunction, as a consequence of dyslipidemia, hypertension, insulin resistance and inflammation, imposes a substantial risk for the development of metabolic syndrome (MS) in childhood and compromises the health of the pediatric population by promoting premature development of atherosclerotic cardiovascular disease.Aim: To inve...

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

Introduction: Obesity in childhood and adolescence has been recognized by the WHO as a global epidemic and a major public health problem. Greece, is one of the main countries in Europe where the problem of childhood obesity has increased rapidly. This rise can be attributed to dietary and physical activity risk factors. Recently, there has been a need for a detailed recording and assessment of the lifestyle habits of children and adolescents receiving personal...

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: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.Case report:</str...