hrp0095p2-280 | Thyroid | ESPE2022

From overt hyperthyroidism to normal thyroid function in TSH receptor activating mutations: reports of two families with novel pathogenetic variants and suggestion of a phenotypical sexual dimorphism

Citterio Valeria , Giavoli Claudia , Stellaria Grassi Elisa , Rurale Giuditta , Profka Eriselda , Rodari Giulia , Giacchetti Federico , Collini Valentina , Campi Irene , Arosio Maura , Persani Luca

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

hrp0089p3-p123 | Diabetes & 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...

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&#...

hrp0082p3-d1-706 | Diabetes | ESPE2014

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

Vitaliti Marcello , Maggio Maria Cristina , Vitaliti Giuliana , Grasso Valeria , Ciofalo Amalia , Rinaudo Grazia , Tranchina Elisa , Costantino Giuseppina , Corsello Giovanni , Barbetti Fabrizio

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

hrp0082p3-d1-901 | Pituitary | ESPE2014

Music Benefits on Postoperative Distress and Pain in Pediatric Day Care Surgery

Calcaterra Valeria , Larizza Daniela , Nakib Ghassan , Ostuni Selene , Bonomelli Irene , Mencherini Simonetta , Zambaiti Elisa , Mannarino Savina , Albertini Riccardo , Tinelli Carmine , Pelizzo Gloria

Background: Postoperative effect of music listening has not been established in pediatric age.Objective and hypotheses: The purpose of this study is to better understand the benefits of music on postoperative distress and pain in Pediatric Day Care Surgery.Methods: Forty-two children admitted for minor or intermediate surgery, were enrolled in this study. Patients were randomly assigned to the ‘music-group’ (music interve...

hrp0084p1-122 | Thyroid | ESPE2015

Congenital Hypothyroidism in Twin Couples and Triplets

Olivieri Antonella , Weber Giovanna , Cassio Alessandra , Costa Pietro , Calaciura Francesca , Medda Emanuela , Vigone Maria Cristina , De Filippis Tiziana , Gelmini Giulia , Marelli Federica , Di Russo Valeria , Persani Luca

Background: Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days) become positive at re-screening, and the utility of a long-term follow-up also in co-twin with negative test at screening and re-screening.Ob...

hrp0084p2-538 | Puberty | ESPE2015

Plasma Humanin Levels During Normal Childhood and Puberty. Study of Possible Correlations with Sex, Age, and Insulin Levels

Dona Valeria De , Ciaccio Marta , Wan Junxiang , Guercio Gabriela , Vaiani Elisa , Krochik Gabriela , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Cohen Pinchas , Belgorosky Alicia

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

hrp0084p3-943 | GH & IGF | ESPE2015

Influence of the Application of the POI Score on the Results of GH Therapy in Prader-Willi

Salvatoni Alessandro , Bocchini Sarah , Crino Antonino , Di Candia Stefania , Grugni Graziano , Iughetti Lorenzo , Nespoli Luigi , Nosetti Luana , Padoan Giovanni , Pilotta Alba , Piran Marzia , Russotto Valeria Spica

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...

hrp0089p2-p131 | Fat, Metabolism and Obesity P2 | ESPE2018

Visfatin, RBP4 and STRA6 polymorphisms’ in relation with Childhood Obesity

Pascanu Ionela , Pop Raluca , Vasilache Simona , Marginean Oana , Moldovan Valeriu , Banescu Claudia

Background: Several visfatin, retinol binding protein 4(RBP4) and high affinity receptor for RBP4, STRA6 (stimulated by retinoic acid) single nuclear polymorphisms’ (SNP) have been investigated regarding their relationship with obesity with controversial results.Aim: To analyze the association of two specific SNP for visfatin, RBP4 and STRA6 with anthropometric markers of obesity in children.Material and method: A case control...

hrp0095p2-63 | Diabetes and Insulin | ESPE2022

Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl with African ancestry

Luterbacher Fanny , Schwitzgebel Valerie

Background: New-onset diabetes in youth can classically fall into three categories: type 1 diabetes (T1D), type 2 diabetes (T2D), or monogenic diabetes (MD). This classification is based on the underlying disease mechanisms, dictates treatment, and predicts outcome. Type B insulin resistance syndrome (TBIR) and ketosis-prone diabetes (KPD) are described in the African population, but their incidence in the pediatric population is very low.<p class="abstext...