ESPE Abstracts

Background: Recognizing the risk of developing obesity is essential to implement preventive measures to avoid the increasing prevalence of obesity in adulthood.Objective: To evaluate predictive factors that may be associated with overweight and obesity in early adulthood.Method: A regression analysis of different variables of body composition in a normal population have been done. The sample consisted of 122 boys and 120 girls foll...

Background: Neurocognitive retardation is one of the most important consequences that small for gestational age (SGA) children may suffer although conflicting results have been published.Objective and hypotheses: The aim of this study was to study psychomotor development (PD) in children born SGA during the first two years of life in order to identify children at risk as early as possible.Method: 108 cases borh SGA have been studie...

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

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...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...