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

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.