hrp0097p1-241 | Diabetes and Insulin | ESPE2023

Association between osteocalcin and secretory function of islet beta cells in diabetic pediatric population: a pivotal study

Lombardo Fortunato , Passanisi Stefano , Lombardo Cristina , Salzano Giuseppina , Bombaci Bruno , Lugarà Cecilia , D' Amico Federica , Grasso Loredana , Aguennouz M'Hammed , Catalano Antonino , Valenzise Mariella

Background: Osteocalcin plays a role in glucose metabolism in mice, but its relevance in human energetic metabolism is controversial. Few data are available on osteocalcin in pediatric patients with T1DM. The aim of our monocenter observational study was to evaluate the role of the main remodelling bone biomarkers in the regulation of glucose metabolism at the time of type 1 diabetes diagnosis and to evaluate their potential relationship with insulin sensitivi...

hrp0089rfc5.1 | Thyroid | ESPE2018

Serum Levels of the Soluble Receptor for Advanced Glycation End Products are Reduced in Children with Hashimoto’s Thyroiditis

Aversa Tommaso , Ruggeri Rosaria Maddalena , Corica Domenico , Cristani Maria Teresa , Mirabelli Silvestro , Vicchio Teresa Maria , Trimarchi Francesco , De Luca Filippo , Wasniewska Malgorzata

Objective: Advanced glycation end products (AGEs) increased oxidative stress and promote inflammation, resulting in the cellular damage, by interacting with their receptor (RAGE) on cell membrane. By contrast, the soluble receptor for AGE (sRAGE), that is proteolytically cleaved from cell surface receptor via matrix metalloproteinases, sequester RAGE ligands and act as a cytoprotective and anti-inflammatory agent. AGEs-RAGE/sRAGE interaction is deemed to play a role in the pat...

hrp0097rfc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Corica Domenico , Di Bonito Procolo , Rosaria Licenziati Maria , Di Sessa Anna , Miraglia Del Giudice Emanuele , Felicia Faienza Maria , Calcaterra Valeria , Franco Francesca , Maltoni Giulio , Valerio Giuliana , Wasniewska Malgorzata

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

hrp0097p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Novel LHX4 rare variant in three patients affected by congenital hypopituitarism, presenting a further co-occurrent desease causing variants in GLI2 and IGF1R

Aiello Francesca , Luongo Caterina , Pascarella Filomena , Rosaria Licenziati Maria , Laura Torella Anna , Del Vecchio Blanco Francesca , miraglia del giudice emanuele , Nigro vincenzo , Santoro Claudia , grandone anna

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

hrp0084p1-32 | Diabetes | ESPE2015

Aetiological Diagnosis of Diabetes in Italian Diabetic Children and Adolescents

Delvecchio Maurizio , Salzano Giuseppina , Mozzillo Enza , Frontino Giulio , Patera Ippolita Patrizia , Toni Sonia , Rabbone Ivana , Cherubini Valentino , Tumini Stefano , D'Annunzio Giuseppe , Iughetti Lorenzo , Maltoni Giulio , Cauvin Vittoria , Marigliano Marco , Barbetti Fabrizio

Background: Type 1 diabetes (T1D) is the most frequent etiology in Italian diabetic children and adolescents. Data on type 2 (T2D) and monogenic diabetes (MD) prevalence are scanty.Objective and hypotheses: To estimate the prevalence of T1D, T2D, secondary diabetes, and MD in a pediatric population of Italian diabetic patients.Method: Data on 3,076 patients (diabetes onset January 2007–December 2012, age at diagnosis <18 y...

hrp0097fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A real-world study in Germany and Switzerland regarding renal health in children with X-linked hypophosphatemia

Böckmann Ineke , Leifheit-Nestler Maren , John Ulrike , Metzing Oliver , Rehberg Mirko , Peter Schlingmann Karl , Kemper Markus , Patzer Ludwig , Weitz Marcus , Wühl Elke , Freiberg Clemens , Sparta Giuseppina , Hiort Olaf , Schnabel Dirk , Hoppe Bernd , Haffner Dieter

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

hrp0095lb14 | Late Breaking | ESPE2022

A formula to simplify the screening fot impaired glucose tolerance in youths with overweight or obesity.

Di Bonito Procolo , Rosaria Licenziati Maria , Gabriela Wasniewska Malgorzata , Corica Domenico , Di Sessa Anna , Miraglia del Giudice Emanuele , Morandi Anita , Maffeis Claudio , Felicia Faienza Maria , Mozzillo Enza , Calcaterra Valeria , Maltoni Giulio , Valerio Giuliana

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

hrp0082p1-d2-120 | Fat Metabolism &amp; Obesity (1) | ESPE2014

RANKL and Osteoprotegerin Serum Levels in Obese Children and Adolescents

Faienza Maria Felicia , Vulpi Maria Rosaria , Piacente Laura , Ventura Annamaria , Lonero Antonella , Luce Vincenza , De Palma Fabrizia , Acquafredda Angelo , Zecchino Clara , Minenna Antonio , Delvecchio Maurizio , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: There is growing evidence of a correlation between fat and bone metabolism at both the clinical and molecular levels, although the systemic regulators have not been clearly identified. The receptor activator of nuclear factor kB ligand (RANKL) and its soluble decoy receptor, osteoprotegerin (OPG), are involved in bone resorption and vascular calcification. OPG levels has been related with insulin resistance in adult obese subjects.Objective a...

hrp0097fc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

W. le Roux Carel , Dominguez-Riscart Jesus , Rosaria Licenziati Maria , Soriano-Guillén Leandro , Haliloglu Belma , Zalin Anjali , Filomena Madeo Simona , Sleiman Patrick , Savoie Charles , Kerem Liya , Argente Jesús

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

hrp0097p1-186 | Thyroid | ESPE2023

Comparison of clinical features, therapy, and disease evolution in a population of children and adolescents with Graves' disease and Type 1 Diabetes compared to Graves' disease alone.

Bernardini Luca , Maltoni Giulio , Cristina Vigone Maria , Franceschi Roberto , Cardinale Giuliana , Mameli Chiara , Piscopo Alessia , Roppolo Rosalia , Savastio Silvia , Ortolani Federica , Randazzo Emioli , Giulia Lambertini Anna , Cassio Alessandra

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...