Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene
Fernández Cancio, Mónica (Vall d'Hebron Institut de Recerca (VHIR))
Antolín, María (Vall d'Hebron Institut de Recerca (VHIR))
Clemente, Maria (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Mogas Viñals, Eduard (Vall d'Hebron Institut de Recerca (VHIR))
Baz-Redón, Noelia (Vall d'Hebron Institut de Recerca (VHIR))
Leno Colorado, Jordi (Vall d'Hebron Institut de Recerca (VHIR))
Comas-Armangué, Gemma (Hospital Universitari Vall d'Hebron)
García Arumí, Elena (Vall d'Hebron Institut de Recerca (VHIR))
Soler Colomer, Laura (Hospital Universitari Vall d'Hebron)
González-Llorens, Núria (Hospital Universitari Vall d'Hebron)
Camats Tarruella, Núria (Vall d'Hebron Institut de Recerca (VHIR))
Yeste Fernández, Diego (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)

Data:	2024
Resum:	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. 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. 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Congenital hypothyroidism ; Thyroid dyshormonogenesis ; Thyroglobulin ; TG ; Gene variant
Publicat a:	Frontiers in endocrinology, Vol. 15 (July 2024) , ISSN 1664-2392

DOI: 10.3389/fendo.2024.1367808
PMID: 39040671

12 p, 910.2 KB

El registre apareix a les col·leccions:
Articles > Articles de recerca
Articles > Articles publicats