Homozygous Resistance to Thyroid Hormone β: Can combined anti-thyroid drug and triiodothyroacetic acid treatment prevent cardiac failure?

C Moran, AM Habeb, GJ Kahaly, C Kampmann, M Hughes, J Marek, O Rajanayagam, A Kuczynski, Vargha-Khadem, M Morsy, AC Offiah, Kenneth Poole, K Ward, G Lyons, D Halsall, L Berman, L Watson, D Baguley, John Mollon, AT Moore, GE Holder, M Dattani & Vengalil Chatterjee
Resistance to Thyroid Hormone beta (RTHβ) due to homozygous THRB defects is exceptionally rare, with only five cases reported worldwide; cardiac dysfunction, which can be life-threatening, is recognised in the disorder. Here we describe the clinical, metabolic, ophthalmic and cardiac findings in a nine-year old boy harbouring a biallelic THRB mutation (R243Q), along with biochemical, physiological and cardiac responses to carbimazole and triiodothyroacetic acid (TRIAC) therapy. The patient exhibits recognised features (goitre, non-suppressed TSH levels,...
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