Thyroid hormone resistance

Abstract

Thyroid hormone resistance (THR) is a rare syndrome of reduced end organ sensitivity. Patients with THR have elevated serum free thyroxine (FT4), free triiodothyronine (FT3), but normal or slightly elevated serum thyrotropin values. The characteristic clinical feature is goitre without symptoms and metabolic consequences of thyroid hormone excess. THR can be classified on the basis of tissue resistance into pituitary, peripheral or generalised (both pituitary and peripheral) types. Mutations in the TRbeta gene, cell membrane transporter and genes controlling intracellular metabolism of thyroid hormone have been implicated. THR is differentiated from thyroid stimulating hormone (TSH) secreting pituitary adenoma by history of THR in the family. No specific treatment is often required for THR; patients with features of hypo- or hyperthyroidism are appropriately treated with levo-triiodothyronine (L-T3), levo-thyroxine (L-T4), dextro-thyroxine(D-T4) or 3,3,5 triiodo-thyroacetic acid (TRIAC). The diagnosis helps in appropriate genetic counselling of the family.

Management of Differentiated Thyroid Cancer in the Presence of Resistance to Thyroid Hormone and TSH-Secreting Adenomas: A Report of Four Cases and Review of the Literature

“…However, ␤-blockers do not prevent accelerated osteoporosis, and therefore follow-up with bone mineral density studies and treatment with calcium and vitamin D should be added to this recommendation. There are also data about the usage of thyroid hormone analogs, such as 3,3,5 triiodothyroacetic acid and dextrothyroxine to suppress TSH in RTH (37,39). It was demonstrated that 3,3,5 triiodothyroacetic acid exerts thyromimetic effects predominantly on pituitary and on hepatic tissue (39 -41).…”

Autoimmune Thyroid Diseases in Children

“…The differential diagnosis of neonatal thyrotoxicosis includes the McCune-Albright syndrome, activating mutations of the TSH receptor and thyroid hormone resistance syndrome [109, 110]. These non-autoimmune etiologies are rare but should be considered if thyrotoxicosis persists beyond 3 months of age.…”

Spuriously high thyroid hormone concentrations measured by chemiluminescent immunoassay attributable to anti‐iodothyronine antibodies in a dog

“…As ‘thyroid hormone resistance syndrome’ (Agrawal and others 2008) and inappropriate TSH secretion from a pituitary adenoma (TSH-oma) have not been described in dogs, spurious hyperiodothyroninaemia caused by T3-AA and T4-AA was considered the most likely differential diagnosis. In accordance, FT4 measured by equilibrium dialysis (FT4-ED) to exclude methodological artefacts, was below the detection limit of the assay (ruling out ‘thyroid hormone resistance syndrome’ and TSH-oma) and titres for TG-AA, T4-AA and T3-AA (estimated by ELISA, Patzl and Möstl, 2003; see Table 1) were markedly elevated.…”