ESPE Abstracts

Background: BoneXpert is a software for automated measurement of bone age (BA) and radiogrammetry (bone health index). The precision error of the software for BA measure is smaller than the human rating error and the accuracy relative to the human routine ratings is 0.80 years. Differences in skeletal maturation between ethnicities have been reported, so it is important to have specific references for the own population.Objective: To present the automate...

Type 1 diabetes (T1DM) in childhood is a highly prevalent disease, with incidence oscillating around 17.6/100000. However, incidence is higher in some communities (25.5/100,000), as it is in the case that concerns us. Diabetic ketoacidosis (DKA) is a complication usually recorded in 25–40% of cases but has been as high as 55% in studies of children under 5 years old. (T1DM) is an associated autoimmune disease to other precursor autoimmune pathologies.<p class="abstext...

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/<...

Introduction: The epidemiology of childhood type 1 diabetes (DM1) allows to understand the genetics and enviromental factors involve in one of the most prevalent chronic disease in children. The unification of methodological recommendations has allowed to detect new research lines.Method: We present an observational study of population under 13 years old and DM1 in Extremadura (1996–2011). The aim was to examine secular trends in the incidence of DM...

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; the mechanisms responsible for the development and progression of NAFLD are incompletely understood. Evidence of high Haemoglobin A1c (HbA1c) levels and the risk of diabetes complications has been demostrated. Recent evidence suggests that metabolic control may have a role in the dev...

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

The insulin-like growth factor (IGF) system is fundamental for physiological processes such as growth and metabolism. In addition, in the brain it regulates glucose metabolism and neuroprotection. The IGF axis can be altered by nutritional status, but little is known regarding the effects of specific dietary components on this system.Our aim was to examine how high-fat diet (HFD) and low-fat/high sucrose diet (LFHSD) intake affect the central and circula...