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Endocrine Abstracts (2014) 34 PL6 | DOI: 10.1530/endoabs.34.PL6

SFEBES2014 Plenary Lecturers’ Biographical Notes BTA Pitt-Rivers lecture (2 abstracts)

Disorders of thyroid hormone action: insights from human genetics

Krishna Chatterjee


University of Cambridge, Cambridge, UK.


Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. Mutations in SECISBP2 cause a multisystem disorder of defective selenoprotein synthesis, with features due to tissue-specific selenoprotein deficiencies (e.g. male infertility, muscular dystrophy), raised cellular reactive oxygen species due to lack of antioxidant selenoenzymes (e.g. photosensitivity, increased adipose mass and function), associated with a biochemical signature due to impaired conversion of T4 to T3 via selenium-containing deiodinases. Genomic thyroid hormone action is mediated via receptor subtypes (TRα, TRβ) with differing tissue distributions. TRβ-mediated resistance to thyroid hormone (RTH) is characterised by elevated thyroid hormones, raised metabolic rate and cardiac hyperthyroidism but hepatic resistance (dyslipidaemia, steatosis). In contrast, TRα1-mediated RTH patients exhibit growth retardation, skeletal dysplasia and constipation together with reduced metabolic rate and cardiac hypothyroidism, with near-normal thyroid hormone levels. The contrasting phenotypes of TRα1 and β- mediated RTH exemplify the differing importance of receptor subtypes in tissues, providing a rational basis for receptor-specific drug development.

Generously supported by Clinical Endocrinology Trust

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