ESPE Abstracts

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...

The increase in childhood obesity prevalence led to the establishment of a monographic obesity clinic since 2009 in our Department. To date, over 1600 patients have been visited, focusing on early onset severity and generating a valuable dataset on the characteristics of these patients (“The Madrid cohort”). This has allowed the performance of genomic and genetic studies, which have led to the demonstration of a genetic background, underlying the development of the d...

Background: Treatment of childhood and adolescent obesity is rarely effective if “cure” i.e., BMI below the obesity range, is used as the definition of success. However, results of obesity treatment is much more effective if treatment is initiated in 6–7 years old children. It is therefore urgent to develop interventions for young children, both preventive and obesity treatment efforts. Results from such interventions as well as preliminary results from ongoing ...

Introduction: Our Centre is an international referral centre for genetic analysis of children with short stature (SS) and features of GH/IGF-1 resistance. Following candidate gene and whole exome sequencing, diagnoses for ~50% patients remained elusive. Copy number variation (CNV) has not previously been investigated in GH/IGF-1 resistance and we hypothesised that CNVs contribute to the phenotype in our undiagnosed cohort.Experimental Design and Methodol...