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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.

Poster Category 1

Thyroid (2)

hrp0092p1-420 | Thyroid (2) | ESPE2019

The Genetic and Clinical Characteristic of Pediatric Patients with Congenital Hypothyroidism Gland In-Situ

Cristina Vigone Maria , Saracco Luca , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Persani Luca , De Filippis Tiziana , Guizzardi Fabiana , Grazia Patricelli Maria , Spiga Ivana , Weber Giovanna

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

hrp0092p1-421 | Thyroid (2) | ESPE2019

Zinc Transporter 8 (ZnT8) as a New Autoantigen in Thyroid Tissue – Preliminary Data

Bossowski Artur , Niklinska Wieslawa , Gasowska Marta , Polnik Dariusz , Szalecki Mieczyslaw , Miklosz Agnieszka , Chabowski Adrian , Reszec Joanna

Zinc (Zn) is a crucial trace mineral that regulates the expression and activation of biological molecules such as transcription factors, enzymes, adapters, channels, and growth factors, along with their receptors. Bioinformatics analysis of the human genome discloses that Zn may bind ~ 10% of all of the proteins found in the human organism. This remarkable finding highlights the physiological significance of Zn in molecules involved in cellular processes and thereby i...

hrp0092p1-422 | Thyroid (2) | ESPE2019

Prospective Evaluation of Autoimmune and Non-Autoimmune Subclinical Hypothyroidism in a Large Cohort of Children and Adolescents with Down Syndrome

Pepe Giorgia , Corica Domenico , De Sanctis Luisa , Salerno Mariacarolina , Felicia Faienza Maria , Tessaris Daniele , Tuli Gerdi , D'Acunzo Ida , Aversa Tommaso , Alibrandi Angela , De Luca Filippo , Wasniewska Malgorzata

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

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</...

hrp0092p1-424 | Thyroid (2) | ESPE2019

Transition for Patients with Chronic Thyroid Diseases

Ratnasabapathy Piriya , Bouthors Thérèse , Antoniou Maria-Christina , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Busiah Kanetee , Hauschild Michael

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

hrp0092p1-425 | Thyroid (2) | ESPE2019

Maternally Inherited Resistance to Thyroid Hormones with Discordant Postnatal Phenotypes in Two Infant Brothers

Cavin Rosalie , Chevalier Claudia , Van Vliet Guy , Deladoëy Johnny

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

hrp0092p1-426 | Thyroid (2) | ESPE2019

A Rare Case of Familial Heterozygous Thyroid Hormone Receptor Beta (THRB) Mutation Presenting with Dilated Cardiomyopathy

Hastings Lucy , Saraff Vrinda , Chikermane Ashish , Boelaert Kristien , Lyons Greta , Moran Carla , Mohamed Zainaba

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

hrp0092p1-427 | Thyroid (2) | ESPE2019

Acquired Hypothyroidism in a Toddler: An Unusual Presentation of Langerhans Cell Histiocytosis

Waldner Richelle , Rosolowsky Elizabeth , Girgis Safwat , Girgis Rose

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

hrp0092p1-428 | Thyroid (2) | ESPE2019

Anti-Gastric Parietal Cells Antibodies for Autoimmune Gastritis Screening: A Follow-Up Study in Young Patients with Autoimmune Thyroid Disease.

Calcaterra Valeria , Montalbano Chiara , Vinci Federica , Miceli Emanuela , Regalbuto Corrado , Albertini Riccardo , Larizza Daniela

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

hrp0092p1-429 | Thyroid (2) | ESPE2019

Genetic Evaluation of Congenital Hypothyroidism with Gland-In-Situ Using Targeted Exome Sequencing

Hyun Shin Jung , Young Kim Hye , Mi Kim Young , Lee Heirim , Hye Bae Mi , Hee Park Kyung , Lee Sae-Mi , Jung Kwak Min

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

hrp0092p1-430 | Thyroid (2) | ESPE2019

Clinical Characteristics and Long-Term Follow-Up of Patients with Congenital Hypothyroidism (CH) due to Thyroid Peroxidase (TPO) Gene Mutations

Tobias Leraz , Almagor Tal , Admoni Osnat , Khayat Morad , Elias-Assad Gadhir , Almashanu Shlomo , Tenenbaum-Rakover Yardena

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...

hrp0092p1-431 | Thyroid (2) | ESPE2019

The Relationship Between Perfluoroalkyl Compounds Concentrations at Ages 2, 4, and 6 Years and Thyroid Function in Early Childhood: A Prospective Cohort Study

Young Kim Hwa , Kim Kyoung-Nam , Ah Lee Young , Lim Youn-Hee , Inhyang Kim Johanna , Kim Bung-Nyun , Oh Se-Young , Hong Yun-Chul , Ho Shin Choong

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

hrp0092p1-432 | Thyroid (2) | ESPE2019

Levothyroxine Effect on Thyroid Volume in Children with Autoimmune Hashimoto Thyroiditis (AHT) Presenting Subclinical (SH) or Overt (Oh) Hypothyroidism

Leka-Emiri Sofia , Petrou Vassilios , Evangelopoulou Cathrine , Vakaki Marina , Fotinou Aspasia , Vlachopapadopoulou Elpis , Michalacos Stefanos

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...