ESPE Abstracts

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 ± 3.3 years) and C (n:22, age 20.2 ± 3 years) u...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The mechanisms responsible for the development of nonalcoholic fatty liver disease (NAFLD) and progression to nonalcoholic steatohepatitis (NASH) in these patients are incompletely understood. Low serum insulin-like growth factor-1 (IGF-1) levels are associated with increased histologic severity of NAFLD. Growing evidence suggests that growth hormone (GH) and IGF-1 may have r...

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

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; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...