ESPE Abstracts

Background: Loss-of-function variants in the NR5A1 gene are frequent causes of 46,XY differences of sex development (DSD). To date, the Human Gene Mutation Database contains 291 NR5A1 variants, most of which are missense (69%). Mouse models demonstrated the effect of loss of SF-1 on sex development, but the interactome of SF-1 is huge and an explanation for the broad phenotype is still missing. Controversies exist as: a) in vitro transactivation assays of NR5A...

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

Background: The link between obesity and dysregulation of adipocytokines, inflammatory cytokines, and oxidative status has been found to underline the pathogenesis of obesity-related complications, such as cardiovascular disease and type 2 diabetes.Objective and hypotheses: The objectives were i) to evaluate the effect of a group-based lifestyle modification program on adipocytokines, inflammatory cytokines, oxidative status, and brachial-ankle pulse wav...

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...

Background: Micronutrients play a fundamental role not only in general health, but also in treatment and protection of various diseases. Selenium and iron are two of the five major elements, aside from vitamins, detected as anti-oxidant agents, widely used with the aim of preventing diseases.Objective and hypotheses: The purpose of this study is to evaluate serum levels of selenium and ferritin in acute infections of childhood.Meth...

Background: There is increasing evidence of vitamin D deficiency world-wide resulting in nutritional rickets. With increasing use of fast foods and reducing appropriate physical activity. Our world is encountered with the problem of obesity which increases the risk of 25-hyroxy vitamin D deficiency.Objective and hypotheses: The aim of this study was to determine the status of serum 25(OH)D level in children 2–14 years old who visited in a pediatric ...

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

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...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...