Disorders of Thyroid Hormone Transporters and Receptors

  • W. Edward Visser


Thyroid hormone transporters and receptors are crucial factors that determine the biological effects of thyroid hormone. This chapter deals with disorders that result from abnormal function of the thyroid hormone transporter MCT8 and of either the thyroid hormone receptor isoforms (resistance to thyroid hormone, RTH). The clinical and biochemical phenotypes, imaging modalities, underlying mechanisms, and treatment options are discussed for MCT8 deficiency, RTH-alpha, and RTH-beta.


Thyroid hormone signaling disorders Thyroid hormone resistance MCT8 deficiency Allan–Herndon–Dudley syndrome AHDS Resistance to thyroid hormone RTH-alpha RTH-beta 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Internal MedicineErasmus Medical CentreRotterdamThe Netherlands

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