Resistencia a hormonas tiroideas: sospecha de una nueva mutación en el gen rTHβ

descriptionPublicationkeyboard_double_arrow_right Article 01 Oct 2016 Spanish Publisher:Elsevier BVJournal:Revista del Laboratorio Clínico, volume 9, pages 173-176 (issn: 1888-4008,

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Authors: Ana Peña Cabia; María Luisa Giménez Alarcón; Ana María Cerezo Arillo; Sandra Serrano Martínez; Enrique Prada de Medio; Mubarack Alramadan;

doi: 10.1016/j.labcli.2016.06.001

Resistencia a hormonas tiroideas: sospecha de una nueva mutación en el gen rTHβ

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Abstract

Resistance to thyroid hormone, described by Refetoff in 1967, it is an autosomic dominant genetic disorder. It is characterised by a reduced soft-tissue response to thyroid hormone action, associated with increased free thyroxin (FT4) levels with no thyrotrophic hormone inhibition, as a consequence of mutations present in thyroid hormone receptor beta gen (rTHβ) in 85% of cases. It is a rare disease and the definitive diagnostic is based on a genetic study. A report is presented on a possible new mutation case of the rTHβ gene.

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Hospital Virgen de la Luz
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