hrp0095fc11.2 | Late Breaking | ESPE2022

The influence of Non-Alcoholic Fatty Liver Disease and of its genetics on thyroid function in children with obesity

Di Sessa Anna , Cembalo Sambiase Sanseverino Nicoletta , Maddalena Marrapodi Maria , Rosaria Umano Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...

hrp0095rfc10.1 | GH and IGFs | ESPE2022

Clinical and biochemical predictors of Permanent Growth Hormone Deficiency (PGHD) at retesting

Petraroli Maddalena , Messina Giulia , Gnocchi Margherita , Lattanzi Claudia , D'Alvano Tiziana , Argentiero Alberto , Neglia Cosimo , Dora Patianna Viviana , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

hrp0095p1-532 | Growth and Syndromes | ESPE2022

Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene.

Petraroli Maddalena , Percesepe Antonio , Piane Maria , Gnocchi Margherita , Messina Giulia , Lattanzi Claudia , D'alvano Tiziana , Dora Patianna Viviana , Ormitti Francesca , Maria Roberta Esposito Susanna , Elisabeth Street Maria

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

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...

hrp0097p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

An Evaluation of coping strategies in girls diagnosed of central precocious puberty before and after the COVID-19 lockdown, and in their mothers: preliminary study.

E Street Maria , Rollo Dolores , Rossi Maurizio , Sartori Chiara , Petraroli Maddalena , Pilloni Simone , Francavilla Roberta , Lattanzi Claudia , Miglioli Irene , Iughetti Lorenzo , Stagi Stefano

During the COVID-19 pandemic, a significant increase in Central Precocious Puberty(CPP) has been observed worldwide. The reasons for this phenomenon are yet unclear. In order to evaluate if fear, stress and coping strategies used by children and parents when dealing with negative emotional situations and health issues might have acted as triggers for this phenomenon, we administered specific questionnaires to girls who had a diagnosis of CPP before and after the COVID-19 relat...

hrp0097p2-107 | GH and IGFs | ESPE2023

Metabolic parameters in a series of patients with Prader-Willi syndrome treated with recombinant growth hormone

Manole Diandra , Radomir Lidia , Boboc Madalina , Brehar Andreea , Procopiuc Camelia , Iordachescu Carmen , Padure Adriana , Vladoiu Suzana , Gherlan Iuliana

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...

hrp0086rfc9.7 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Chronotype and Type 2 Diabetes Risk in Preadolescents

Dumin Magdalena , O'Sullivan Katie , Van Cauter Eve , Koren Dorit

Background: An individual’s chronotype, or preference in the timing of sleep or food intake, may have metabolic implications. Late chronotype has been associated with higher body mass index (BMI) and hemoglobin A1c (HbA1c) in adults and greater BMI, portion sizes, and lower HDL cholesterol levels in adolescents.Objective and hypothesis: To examine associations between chronotype and risk factors for type 2 diabetes in children ages 10–13 years....

hrp0086rfc14.7 | Growth : Mechanisms | ESPE2016

GH Influences Plasma Fasting Adropin Concentration in Patients with Turner Syndrome

Wikiera Beata , Krawczyk Magdalena , Noczynska Anna , Daroszewski Jacek

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...

hrp0082p1-d2-244 | Thyroid (1) | ESPE2014

Treatment of Graves’ Disease with Methimazole in Children Alters the Proliferation of Treg Cells and T Lymphocytes

Klatka Maria , Grywalska Ewelina , Wasiak Magdalena , Rolinski Jacek

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

hrp0084p2-226 | Bone | ESPE2015

Association between Oxidative Stress and Bone Turnover Markers in the Obese Children

Matusik Pawel , Olszanecka-Glinianowicz Magdalena , Chudek Jerzy , Malecka-Tendera Ewa

Background: Recent data have been showed that free radicals are involved in either bone resorption and atherosclerosis development in adults. In paediatric population the important risk factor for the early atherosclerosis development is obesity, which can be also associated with the disturb bone turnover.Objective and hypotheses: The aim of the study was to evaluate the interrelationship between oxidative stress and bone turnover markers in obese childr...