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ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1367808

CLINICAL AND MOLECULAR STUDY OF PATIENTS WITH THYROID DYSHORMOGENESIS AND VARIANTS IN THE THYROGLOBULIN GENE

Provisionally accepted
Mónica Fernández Cancio Mónica Fernández Cancio 1,2,3*María Antolín María Antolín 1,2María Clemente María Clemente 1,2,3,4Ariadna Campos-Martorell Ariadna Campos-Martorell 1,2,4Eduard Mogas Eduard Mogas 1,2,4Noelia Baz Noelia Baz 1,2,3Jordi Leno Jordi Leno 1,2Gemma Comas-Armangué Gemma Comas-Armangué 2Elena García-Arumí Elena García-Arumí 1,2,3Laura Soler Colomer Laura Soler Colomer 2Núria González-Llorens Núria González-Llorens 2Núria Camats Núria Camats 1,2,3Diego Yeste Diego Yeste 1,2,3,4
  • 1 Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
  • 2 Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain
  • 3 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Madrid Community, Spain
  • 4 Autonomous University of Barcelona, Barcelona, Catalonia, Spain

The final, formatted version of the article will be published soon.

    Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with TG variants.Method: A CH high-throughput sequencing-panel of the main genes involved in the regulation of thyroid hormonogenesis was performed to identify those TG variants that may be related to patient THD phenotype.We identified 21 TG gene variants in 19 patients (11.8%) which could explain their phenotype. Ten of those (47.6%) were not previously described. CH was biochemically severe in these 19 patients. Eight of them were reevaluated after one month of discontinuing LT4 treatment and all had severe permanent hypothyroidism. We also identified another 16 patients who presented heterozygous TG variants, of whom, at reevaluation, five had mild permanent and only one had severe permanent hypothyroidisms.Eliminado: A total of 160 patients from the CH Neonatal Discussion: In this study, 10 novel and 11 previously reported variants in the TG gene have been identified that could explain the phenotype of 19 patients from non-consanguineous families from a large THD cohort. Although not all these TG gene variants can explain all the patients' THD phenotypes, some of them had severe or mild permanent hypothyroidism at reevaluation.

    Keywords: Congenital Hypothyroidism, Thyroid dyshormonogenesis, Thyroglobulin, TG, gene variant Tachado, Resaltar Con formato: Tachado Con formato: Tachado, Resaltar Subrayado, Tachado

    Received: 09 Jan 2024; Accepted: 27 May 2024.

    Copyright: © 2024 Fernández Cancio, Antolín, Clemente, Campos-Martorell, Mogas, Baz, Leno, Comas-Armangué, García-Arumí, Soler Colomer, González-Llorens, Camats and Yeste. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Mónica Fernández Cancio, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain

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