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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.

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0092fc5.2 | Thyroid | ESPE2019

Lower Proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B Cells in Children with Autoimmune Thyroid Diseases

Stozek Karolina , Grubczak Kamil , Marolda Viviana , Eljaszewicz Andrzej , Moniuszko Marcin , Bossowski Artur

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

hrp0092fc5.3 | Thyroid | ESPE2019

Predominant DICER1 Mutations in Pediatric Follicular Thyroid Carcinomas

Ah Lee Young , Im Sun-Wha , Cheon Jung Kyeong , Jae Chung Eun , Ho Shin Choong , Kim Jong-II , Park Young Joo

Background: Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC).Methods: We investigated genetic alterations in tumor tissues from 15 patients aged < 20 years (median: 14.3 years; range: 2.4-19.0 years) using multifaceted approaches. Whole-exome seque...

hrp0092fc5.4 | Thyroid | ESPE2019

Thyroid Dysgenesis: Exome-Wide Analysis Identifies Rare Variants in Genes Involved in Thyroid Development and Cancer

Larrivée-Vanier Stéphanie , Jean-Louis Martineau , Magne Fabien , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoëy Johnny

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

hrp0092fc5.6 | Thyroid | ESPE2019

Homozygous Loss-of-Function Mutation in the SLC26A7 Gene Coding a Novel Iodide Transporter Causes Goitrous Congenital Hypothyroidism

Suzuki Atsushi , Ishii Jun , Yoshida Aya , Yamguchi Naoya , Tanaka Tatsushi , Aoyama Kohei , Tateyama Michihiro , Chen I-Shan , Kubo Yoshihiro , Kimura Toru , Yazawa Takuya , Arimasu Yu , Kamma Hiroshi , Saitoh Shinji , Mizuno Haruo

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...