ESPE Abstracts

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

Background: Low bone mineral density (BMD) has been found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. However, the mechanism/s of low BMD in PWS have not been clarified. These patients also display high BMI-SDS that prompted us to evaluate the levels of LIGHTTNFSF14, a cytokine involved in pathological bone remodeling and obesity.Objecti...

Background: Recent studies have suggested a role of IGF1 as a candidate prognostic marker for cardiometabolic complications of obesity.Objective: To investigate the relationship between IGF1 serum levels and both biochemical and metabolic parameters as well as body composition in a cohort of obese children.Methods: obese subjects (130F/157M), aged 11.2±2.7 years, were studied. Anthropometry, biochemical and metabolic parameter...

Background: There are two liquid formulations of Levothyroxine currently in use in Italy: one containing ethanol (Tirosint®) and the other ethanol-free (Tifactor®). The aim of our study is to compare the two liquid formulations of Levothyroxine in the first six months of treatment in newborns affected by Congenital Hypothyroidism (CH).Methods: We retrospectively enrolled 156 patients treated with the ethanol-cont...

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), Albright’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

Background: ROHHAD(NET) syndrome has been proposed as an acquired neuroimmunological dysfunction. Aim of the study is to compare the phenotype of lymphocyte subpopulations in patients vs controls and to evaluate the plasma levels of pro-inflammatory cytokines/chemokines in ROHHADNET syndrome.Patients and Methods: We included 14 patients (9F;5M), selected by clinical criteria, matched with 11 controls with simple obesity ...

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...