ESPE Abstracts

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: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

Background: The ability to respond to stress constitutes a defensive protective mechanism; both inadequate and excessive responses may be detrimental.Objective and hypotheses: To investigate the effect of increased body weight on the hormonal response to stress in children. Scheduled surgical procedures include two stressful parts, a psychological one (anticipation of operation) and a biological one (surgical stress per se) and were chosen as a study mod...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: Many children with type 1 diabetes (T1D) are asked to measure blood glucose (BG) 4–6 times a day routinely to adjust insulin dosages. There is no evidence though that such high frequency is beneficial to HbA1C or glycemic profile, although this is often claimed.Objectives: We challenged ‘the more BG measurements, the better control’ dogma for alleviation of T1D burden in child life and evaluation of HbA1C.<p class="abstext"...

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

Background: Incidence of hypospadias varies considerably across countries, ranging from 4 to 43 cases per 10,000 births. Environmental factors might explain these differences. The classical approach is to use case-control studies to identify these factors. However, this approach suffers from the unavoidable arbitrariness of the definition of controls, and of recall bias.Objective and hypotheses: To identify environmental markers of the place of birth of ...

Background: The prevalence of childhood obesity is increasing all over the world and leading to an increase in obesity-related health problems such as adult obesity, cardiovascular diseases, type 2 diabetes and depression. There is no nationwide systematic study investigating obesity trends in Turkish children.Objective and hypotheses: The aim of this study is to determine the prevalence of overweight and obesity among school age children, to compare the...

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

Background: Several definitions of poor growth response to first-year GH treatment, have been proposed based on the observed response of a large group of patients.Objective and hypotheses: Since a complete compensation of the height deficit is expected in children with GH deficiency (GHD) treated with GH, we have studied the different parameters for the first-year growth response in relation to the adult height gain in prepubertal children with iGHD....