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We present a case series of generalized resistance to thyroid hormones (GRTH) running in three successive generations of a family due to a point mutation. The index case was a 45 year old female presenting with features suggestive of thyrotoxicosis and was inappropriately diagnosed as Graves disease receiving carbimazole initially followed by radio-iodine ablation in 1995. TSH was not measure at initial presentation. Post radio-ablative thyroxine replacement was commenced at 8 weeks but the TSH remained inappropriately unsuppressed despite prescribing supraphysiological dosages of thyroxine (Table below).

R438H missense mutation related generalised resistance to thyroid hormone (GRTH): a case series report in three generations