ESPE Abstracts

Background: Obesity is characterised by excessive fat accumulation coursing with a chronic mild inflammatory state, with adipose tissue (AT) being the main site of increased systemic cytokine production. Increased adiposity early in life is the main risk factor for cardiometabolic disorders later in life, with the abnormal accumulation of lipids in AT leading to the production of pro-inflammatory cytokines. Inflammatory process that involves metabolic and card...

Introduction: Carbohydrate restriction (CH-R) in adolescents with obesity results in faster BMI reduction and glucose metabolism improvement than diets with normal carbohydrate proportion, without a higher weight regain in the short term. However, data on weight and metabolic trajectories of these patients after a more prolonged follow-up are sparse.Objectives: To evaluate metabolic and body composition evolution during ...

Introduction: Both poor and optimal metabolic control of type 1 diabetes mellitus (T1DM) in children can impact longitudinal growth. A decrease in insulin-like growth factor (IGF)-I and its binding protein 3 (IGFBP3) has been described in these patients. New growth regulatory factors [pappalysins (PAPP-As) and stanniocalcins (STCs)] could modulate the bioavailability of IGFs by regulating the concentrations of intact and free IGFBPs.<str...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

Objectives: Previous studies have described impaired growth in HIV-infected children. Many of them showed weight and height improve after ART initiation Most series include children from resource limited settings in which malnutrition is frequent and treatment is not fully available. We aim to characterize long-term growth in a cohort of HIV-infected children after ART initiation and to identify determinant factors.Methods</stron...

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

Background: The incidence of paediatric papillary thyroid cancer (PTC) is increasing.Objective and hypotheses: To describe the clinical and histopathologic features at diagnosis, and follow-up of paediatric patients with PTC at Children’s Hospital of Mexico in a 10 years period.Method: Comparative longitudinal study. We included 22 paediatric patients with histopathologic diagnosis of PTC between 2004–2014, divided into r...

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...