hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. 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 of life) become positive at re-screening, and the utility of a long-term f...

hrp0098p2-102 | Fat, Metabolism and Obesity | ESPE2024

Diagnosis of monogenic obesity: the uncertainty due to the occurrence of VUS has decreased over time. A single center experience of variant follow-up.

Morandi Anita , Fornari Elena , Corradi Massimiliano , Olivieri Francesca , Piona Claudia , Maguolo Alice , Panzeri Carola , Emiliani Federica , Cavarzere Paolo , Maffeis Claudio

Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We aim ed to describe our real-life approach of variant re-assessment over time for managing classification uncertainty in the diagnosis of monogenic obesity, and to infer if population data updates and novel functional evidence are decreasing inconclusive variants.Methods: We tested 101 children/adolescents (...

hrp0086wg4.4 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

“A Clinical and Genetic Approach to Diagnosis and Treatment of Fractures in Infancy”

Semler Oliver

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

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</...

hrp0089p1-p249 | Thyroid P1 | ESPE2018

Neonatal Screening for Congenital Hypothyroidism: Age-dependent Reference Intervals for Dried Blood Spot TSH in the Neonatal Period

Corbetta Carlo , Angelis Simona De , Rotondi Daniela , Alberti Luisella , Cassini Pamela , Mariani Tiziana , Caiulo Silvana , Vigone Maria Cristina , Weber Giovanna , Olivieri Antonella

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

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...

hrp0098rfc11.5 | Fat, Metabolism and Obesity 2 | ESPE2024

Hepatic lipogenesis increases FGF21 in children/adolescents with obesity.

Maffeis Claudio , Morandi Anita , Zusi Chiara , Olivieri Francesca , Fornari Elena , Corradi Massimiliano , Emiliani Federica , Da Ros Alessandro , Mantovani Alessandro , Targher Giovanni

Background and aim: Fibroblast growth factor 21 (FGF21) is produced and expressed in several tissues but mainly in the liver and adipose tissue, where it has endocrine and paracrine functions. Several experimental studies reported that FGF21 decreases lipogenesis, triggers beta oxidation of fatty acids, reduces hepatic ER stress and VLDL release and reduces fasting and postprandial triacylglycerols (TG). Consistently, several phase 2 trials with FGF21-agonists...

hrp0098p1-207 | Thyroid 2 | ESPE2024

Newborn screening for congenital hypothyroidism and re-screening at two weeks of life in infants born to mothers with thyroid diseases.

Vincenzi Gaia , Cristina Vigone Maria , Cavarzere Paolo , Palma Lorella , Camilot Marta , Teofoli Francesca , Amicosante Riccardo , Rotondi Daniela , Cereda Cristina , Cappelletti Laura , Alberti Luisella , Barera Graziano , De Angelis Simona , Olivieri Antonella

Background: The benefit of re-screening at 15 days of life in infants born to mothers with thyroid diseases (TD+) is a debated issue. In Italy, all the 16 newborn screening (NBS) laboratories use TSH measurement on dried blood spot as primary screening test for primary congenital hypothyroidism (CH) and adopt a 2-screen strategy in special categories of infants at risk of delayed TSH rise (preterm birth, admission to NICU, extra-thyroidal malformations, twinni...

hrp0086p2-p502 | Fat Metabolism and Obesity P2 | ESPE2016

Metabolic Syndrome in Prepubertal Obese Children: Inclusion of the Triglyceride/Hdl Ratio as an Alternative Diagnostic Criterion

Boquete Carla , Jesica Baran , Yuseff Fernanda Alvarez , Suarez Martha , Fideleff Gabriel , Azaretzky Miriam , Aranguren Marcela , Fusero Mariela , Ruibal Gabriela , Fideleff Hugo , Boquete Hugo

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...