ESPE Abstracts

HMGB1 is a small-protein which reflects both inflammation and insulin-sensitivity. Inflammation and insulin-resistance are features of PCOS. IL-6 is important for ovarian function and can contribute to insulin-resistance. IGFBP-2 behaves like an acute-phase protein and is increased in chronic inflammation. It is also involved in the glucose-metabolism regulation and IGFBP-2 overexpression plays a protective role against insulin-resistance. Insulin functions as a co-gonadotropi...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

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...

Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated lin...

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...