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Thyroid hormone receptors and resistance to thyroid hormone disorders #MMPMID25135573
Ortiga-Carvalho TM; Sidhaye AR; Wondisford FE
Nat Rev Endocrinol 2014[Oct]; 10 (10): 582-91 PMID25135573show ga
Thyroid hormone action is predominantly mediated by thyroid hormone receptors (THRs), which are encoded by the thyroid hormone receptor ? (THRA) and thyroid hormone receptor ? (THRB) genes. Patients with mutations in THRB present with resistance to thyroid hormone ? (RTH?), which is a disorder characterized by elevated levels of thyroid hormone, normal or elevated levels of TSH and goitre. Mechanistic insights about the contributions of THR? to various processes, including colour vision, development of the cochlea and the cerebellum, and normal functioning of the adult liver and heart, have been obtained by either introducing human THRB mutations into mice or by deletion of the mouse Thrb gene. The introduction of the same mutations that mimic human THR? alterations into the mouse Thra and Thrb genes resulted in distinct phenotypes, which suggests that THRA and THRB might have non-overlapping functions in human physiology. These studies also suggested that THRA mutations might not be lethal. Seven patients with mutations in THR? have since been described. These patients have RTH? and presented with major abnormalities in growth and gastrointestinal function. The hypothalamic?pituitary?thyroid axis in these individuals is minimally affected, which suggests that the central T3 feedback loop is not impaired in patients with RTH?, in stark contrast to patients with RTH?.
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Nat+Rev+Endocrinol 2014 ; 10 (10): 582-91
