Work

A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms

Year: 2017

Type: article

Abstract: There are two genes that express the major thyroid hormone receptor isoforms. Mutations in both these genes have given rise to Resistance to Thyroid Hormone (RTH) syndromes (RTHβ, RTHα) that can have variable phenotypes for mutations of the same receptor isoform as well as between the two receptor isoforms. In general, the relative tissue-specific distribution of TRβ and TRα determine RTH in different tissues for each form of RTH. These differences highlight some of the isoform-specific roles of each TR isoform. The diagnosis of RTH is challenging for the clinician but should be considered whenever a patient presents with unexplained elevated serum free T 4 (fT 4 ) and unsuppressed TSH levels, as well as decreased serum free T 4 /T 3 ratio. Here we provide a guide for the clinician to diagnose and treat both types of RTH.

Source: Clinical Diabetes and Endocrinology

DOI: 10.1186/s40842-017-0046-z

Authors: Brijesh K. Singh, Paul M. Yen

Institutions: National University of Singapore, Duke-NUS Medical School

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,290