Previous issue | Volume 98 | ESPE2024

62nd Annual ESPE (ESPE 2024)

Liverpool, UK
16 Nov 2024 - 18 Nov 2024

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The 62nd ESPE Annual Meeting will now be taking place in Liverpool, UK.

Poster Category 1

Thyroid 2

hrp0098p1-199 | Thyroid 2 | ESPE2024

Novel compound heterozygous mutations in the SBP2 gene.

Jeong Hwalrim , Kwon Eunbyul

Mutations in the selenocysteine insertion sequence binding protein 2 gene (SECISBP2 also known as SBP2) result in a multisystemic disorder. A 4-year-old Korean girl presented with atypical thyroid function test result, characterized by normal TSH 2.13 μIU/mL, decreased T3 0.51 ng/mL, free T3(FT3) 1.71 (pg/mL), and elevated free thyroxine (FT4) 4.28 ng/dL. Additionally, she exhibited short stature below 2 standard deviations and delayed bone age. She has not yet begun speaki...

hrp0098p1-200 | Thyroid 2 | ESPE2024

Severe congenital hypothyroidism due to a novel homozygous variant affecting the conserved CAGYC region of TSHβ

Barskaya Maria , Makretskaya Nina , Demina Elena , Petryaykina Elena , Tiulpakov Anatoly

Background: Central congenital hypothyroidism (CCH) is a rare disorder. It may be a component of multiple pituitary hormone deficiency or (more rarely) represent an isolated entity, for which several monogenic causes are described.Aims: We report here a case of severe hypothyroidism caused by a novel homozygous variant in the TSHB gene.Results: The proband, a male from a c...

hrp0098p1-201 | Thyroid 2 | ESPE2024

Potential Role of Selected miRNAs in the Pathogenesis of Autoimmune Thyroid Diseases in Children and Adolescents

Sawicka Beata , Sulewska Anetta , Kulczyńska- Przybik Agnieszka , Bossowski Filip , Dulewicz Maciej , Borysewicz-Sańczyk Hanna , Mroczko Barbara , Niklinski Jacek , Bossowski Artur

Background: Many epigenetic factors, including microRNAs, are involved in the process of changing gene expression. MiRNAs are small non-coding RNA molecules that regulate gene translation by silencing or degrading target mRNAs. They are recognized as novel diagnostic and prognostic biomarkers for many diseases. Patients with autoimmune thyroid diseases are more likely to develop nodules in the thyroid tissue, and Hashimoto's thyroiditis and Graves’ ...

hrp0098p1-202 | Thyroid 2 | ESPE2024

Association between long-term exposure to fine particulate matter and onset of autoimmune thyroid diseases in children and adolescents: Evidence from a nationwide cohort study in Korea

Soon Kim Hae , Eun Choi Jung , Oh Jongmin , Hee Kim Kyung , Mun Eunji , Ha Eunhee

Backgrounds and Aims: Several previous studies have suggested an association between exposure to air pollution and thyroid hormone levels. But epidemiological evidence on the association between fine particulate matter (PM2.5) and onset of autoimmune thyroid diseases (AITD) in children and adolescents is scarce. This study aimed to identify the association between long-term exposure PM2.5 and onset of AITD in children and adolescents of S...

hrp0098p1-203 | Thyroid 2 | ESPE2024

Experience with Combined T4 and T3 Therapy in Childhood Hypothyroidism

Alan Tehc&idot; Basak , Tugce Tunca Kucukali Elif , Doger Esra , Bideci Aysun , Orhun Camurdan Mahmut

Introduction: In cases of congenital and acquired hypothyroidism, there can be a development of resistance to Levothyroxine (LT4) over time. The cause of this clinical picture is unknown and often improves later in life. However, in some cases or receptor expression disorders, it may be necessary to add T3 to the treatment to overcome this condition.Aim: This study aims to determine the characteristics of cases where per...

hrp0098p1-204 | Thyroid 2 | ESPE2024

Impact of the Presence of a Feeding Tube on Tiratricol Maintenance Dosing and Efficacy Outcomes in Patients with MCT8 Deficiency

Groeneweg Stefan , Edward Visser W.(on behalf of the Triac Trial I investigators)

Objective: The Triac Trial I was a multicentre, open-label, single-arm, Phase II study of tiratricol (triac) in the treatment of monocarboxylate transporter 8 (MCT8) deficiency. The study demonstrated the beneficial effect of tiratricol in alleviating peripheral thyrotoxicosis. A subset of patients entered the study whilst having a feeding tube. Here, we investigate the impact of the presence of a feeding tube on tiratricol dosing and reaching the serum total ...

hrp0098p1-205 | Thyroid 2 | ESPE2024

Treatment Outcomes in Pediatric Differentiated Thyroid Carcinoma: A Single Center Experience

Altun Ilayda , Velioglu Haslak Gökce , Ucar Mert , Karakas Hasan , Bingöl Aydın Dilek , Cakır Aydilek , Bayramoglu Elvan , Turan Hande , Evliyaoglu Olcay

Objectives: American Thyroid Association (ATA) and European Thyroid Association (ETA) published guidelines about evaluation, treatment and follow-up. Despite these recommendations, published data on this subject is insufficient. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC.Methods: Medical records of 46 children diagnosed with DTC, between 200...

hrp0098p1-206 | Thyroid 2 | ESPE2024

Usefulness of T4 measurement in neonatal screening for congenital hypothyroidism - Experience of two Italian Centers

Di Mase Raffaella , Ibba Anastasia , Amitrano Marianna , Lorello Paola , Vasaturo Sara , Incandela Valeria , Capalbo Donatella , Salerno Mariacarolina

The initial priority of newborn screening (NBS) for congenital hypothyroidism (CH) should be the detection of the primary forms (prevalence: 1:2000-3000), characterized by elevated TSH and reduced FT4 values. When financial resources are available, guidelines recommend adding measurement of T4 or FT4 to screen for central CH (CeCH), characterized by reduced T4/FT4 and reduced, normal or inadequately elevated TSH. Most NBS programs for CH are based on TSH measurement only, ther...

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...