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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Rapid Free Communications

Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia)

hrp0092rfc9.1 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Targeted Next-Generation Sequencing for Congenital Hypothyroidism with Positive Neonatal TSH Screening Results

Yamaguchi Takeshi

Background and Objective: Congenital hypothyroidism (CH) is mostly detected with neonatal newborn screening (NBS). CH is the most common neonatal endocrine disorder with an incidence of 1:2,000-1:4,000. However the molecular etiology is sill poorly understood, considering pathogenic variations in candidate genes have been found only in 10-20 % of CH. We performed mutations screening of causative genes through a systematic Next Generation Sequencing (NGS) a...

hrp0092rfc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Age-Specific Reference Values for Plasma FT4 and TSH Concentrations in Healthy, Term Neonates at Day Three to Seven, and 13 to 15 of Life

Naafs J.C. , Heinen C.A. , Zwaveling-Soonawala N. , van der Schoor S.R.D. , Tellingen V. van , Heijboer A.C. , Fliers E. , Boelen A. , van Trotsenburg A.S.P.

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

hrp0092rfc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Screening for Congenital Hypothyroidism: Analysis of a Large Coorte of Affected Patients (1987-2017) and Relationship with Perfluoroalkylated Substances (Pfas) in North-Eastern Italy

Gaudino Rossella , Beccherle Federico , Cavarzere Paolo , Lauriola Silvana , Camilot Marta , Teofoli Francesca , Vincenzi Monica , Rizzoli Christian , Antoniazzi Franco

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

hrp0092rfc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre

Bosch Laura , Kallefullah Mohammad Jasmina , Dastamani Antonia , Gilbert Clare , Morgan Kate , Houghton Jayne , Ellard Sian , Flanagan Sarah , Shah Pratik

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

hrp0092rfc9.5 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Spectrum of Neuro-Developmental Disorders in Children with Congenital Hyperinsulinism Due to Activating Mutations in GLUD1

Aftab Sommayya , Gubaeva Diliara , Dastamani Antonia , Sotiridou Ellada , Gilbert Clare , Houghton Jayne , Flanagan Sarah E. , Melikyan Maria , Shah Pratik

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

hrp0092rfc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Extra Uterine Growth Restriction (EUGR) in Very Low Birth Weight Infants: Growth Recovery and Neurodevelopment by the Corrected Age of 2 Years Old

Lucaccioni Laura , Arrigoni Marta , Della Casa Elisa , Bertoncelli Natascia , Predieri Barbara , Berardi Alberto , Pugliese Marisa , Ferrari Fabrizio , Iughetti Lorenzo

Background: Extra Uterine Growth Restriction (EUGR) represents a serious comorbidity in infants born very low birth weight (VLBW). In fact, failure in postnatal growth and malnutrition at vulnerable ages can interfere with growth recovery and neurodevelopment at older ages.Hypothesis: Aim of the study was to assess whether and how the postnatal early growth patterns of VLBW may affect later growth, spontaneous motility a...