title: [Thyroid hormone resistance (THR): a case report].
abstract: Thyroid hormone resistance is a syndrome characterized by a reduced response to thyroid hormone with different degrees of resistance at target tissues. We present the clinical features, physical findings, and study protocol in a woman with thyroid hormone resistance. An arginine to tryptophan mutation on the β isoform of the thyroid hormone receptor gene was demonstrated. Thyroid hormone resistance is an uncommon cause of thyroid dysfunction. It is necessary to perform an adequate study and confirmation to avoid an inadequate and ineffective treatment of this condition.
authors.affiliation: Departamento de Endocrinología y Metabolismo, México, D.F.
authors.forename: Paloma
authors.initials: P
authors.lastname: Almeda-Valdés
authors.affiliation: Departamento de Endocrinología y Metabolismo, México, D.F.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Pérez-Enríquez
authors.affiliation: Departamento de Endocrinología y Metabolismo, México, D.F.
authors.forename: Daniel
authors.initials: D
authors.lastname: Cuevas-Ramos
authors.affiliation: Departamento de Medicina Interna, México, D.F.
authors.forename: Iván
authors.initials: I
authors.lastname: Pérez-Díaz
authors.affiliation: Departamento de Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México, D.F.
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Tusié-Luna
authors.affiliation: Departamento de Endocrinología y Metabolismo, México, D.F.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: Gómez-Pérez
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics / Q000503:physiopathology*
chemical_list: D037042:Thyroid Hormone Receptors beta