hrp0092p1-45 | Fat, Metabolism and Obesity | ESPE2019

Non-Alcoholic Fatty Liver Disease and eGFR Levels could be Linked by the PNPLA3 I148M Polymorphism in Obese Children

Di Sessa Anna , Marzuillo Pierluigi , Guarino Stefano , Capalbo Daniela , Rosaria Umano Giuseppina , Pedulla' Marcella , La Manna Angela , Cirillo Grazia , Miraglia Del Giudice Emanuele

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

hrp0092p1-106 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Management and Treatment Outcome of Craniopharyngiomas in Young Children Before 4 Years of Age in Italy: Multicentre Collection of 16 Cases

Baronio Federico , Zucchelli Mino , Aversa Tommaso , Driul Daniela , Guzzetti Chiara , Iughetti Lorenzo , Matarazzo Patrizia , Parpagnoli Maria , Pedicelli Stefania , Pozzobon Gabriella , Salerno Mariacarolina , Zucchini Stefano

Introduction: Craniopharyngiomas (CP) are rare pediatric intracranial tumors (1.2-4%) with a peak of incidence between 5-14 years . We retrospectively reviewed data of 16 cases (M/F 4/12) diagnosed before 4 years of age (median follow up 7.2 years) from a cohort of 117 patients (pts) (M/F 56/41) diagnosed after 01/01/2000, followed-up in 14 Italian centres of pediatric endocrinology belonging to the Italian Society for Pediatric Endocrinology and Diabetolo...

hrp0092p1-252 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Brain Malformations and Sellar Spine as Possible Causes of Central Precocious Puberty in a Large Monocentric Study

Fava Daniela , Calandrino Andrea , Morana Giovanni , Gastaldi Roberto , Allegri Anna Elsa Maria , Napoli Flavia , Roviglione Barbara , Di Iorgi Natascia , Maghnie Mohamad

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

hrp0092p1-362 | GH and IGFs (2) | ESPE2019

Sequencing Approach to Identify Candidate Genes Involved in Short Stature

Formicola Daniela , Pagliazzi Angelica , Peluso Francesca , Cardinale Antonella , Capasso Mario , Iolascon Achille , Tiberi Lucia , Vergani Debora , Vanderwert Fiorenza Irushani , Ricci Franco , Giglio Sabrina , Stagi Stefano

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

hrp0092p1-423 | Thyroid (2) | ESPE2019

Congenital Hypothyroidism (CH) Detected by the Second Newborn Screening in Lombardia Region: Incidence and Evolution of CH

Caiulo Silvana , Cristina Vigone Maria , Di Frenna Marianna , De Angelis Simona , Rotondi Daniela , Vincenzi Gaia , Lucchi Simona , Alberti Luisella , Barera Graziano , Corbetta Carlo , Olivieri Antonella , Weber Giovanna

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0089rfc10.3 | Late Breaking | ESPE2018

Developmental Regulation of Obestatin and Adropin in Prader-Willi Syndrome and Non-Syndromic Obesity: Associations with Weight, BMI-z, HOMA-IR, and Lipid Profile

Orsso Camila E , Butler Andrew A , Muehlbauer Michael J , Cui Huaxia N , Rubin Daniela A , Pakseresht Mohammadreza , Butler Merlin G , Prado Carla M , Freemark Michael , Haqq Andrea M

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

hrp0089p3-p123 | Diabetes &amp; Insulin P3 | ESPE2018

AID-GM System (Advanced Intelligent Distant – Glucose Monitoring) to Monitor Health Status and Metabolic Control of Young People with Type 1 Diabetes

Calcaterra Valeria , Sacchi Lucia , Salvi Elisa , Larizza Daniela , Made Alexandra , Schiano Luca Maria , Montalbano Chiara , Regalbuto Corrado , Bellazzi Riccardo , Larizza Cristiana

Aim of the study: In type 1 diabetes, it is well recognized that collecting additional information about diet, physical activity, health status, stress and any patients’ everyday behavior, is crucial to evaluate accurately metabolic control and therapeutic prescription adherence. The aim of this study is to test AID-GM (Advanced Intelligent Distant – Glucose Monitoring) a web-based platform, able of collecting automatically patient generated health data (PHGD) coming...

hrp0089p1-p100 | Fat, Metabolism and Obesity P1 | ESPE2018

Serum Catestatin Levels in Obese Children and Adolescents

Šimunović Marko , Šupe-Domić Daniela , Karin Željka , Božić Joško , Unić Ivana , Škrabić Veselin

Objectives: The obesity in population of children and adolescents is one of the biggest public health problems in word today. Early childhood obesity with cluster of metabolic disorders (insulin resistance, impaired glucose tolerance, dyslipidemia and hypertension) are risk factor for cardiovascular morbidly and mortality later in life. Catestatin is a Chromogranin A derived peptide which reduces hepatic/plasma lipids, plasma insulin, improves insulin sensitivity, reduces hype...

hrp0089p2-p126 | Fat, Metabolism and Obesity P2 | ESPE2018

Serum Calprotectin Level in Children: Marker of Obesity and Its Metabolic Complications

Calcaterra Valeria , Amici Mara De , Silvestri Annalisa De , Michev Alexandre , Montalbano Chiara , Regalbuto Corrado , Schiano Luca Maria , Cena Hellas , Larizza Daniela

Aim: Circulating levels of calprotectin have been reported in obesity-related chronic low-grade inflammation in adults, but has not been evaluated in pediatric population. We investigated serum calprotectin in overweight and obese children and its association with metabolic comorbidities.Methods: We enrolled 131 children (11.7±4.1 years). According to BMI, the subjects were divided into three groups: obese >95th percentile; overweight BMI 75th&#...