Endocrine Abstracts

: A family with generalised resistance to thyroid hormone secondary to a missense point mutation in thyroid hormone receptor β (TR-β) gene corresponding to substitution of arginine to histidine at amino acid 438 (R438H) is described in three successive generations.Case 1: (Index case) A 43 year old lady presented with thyrotoxicosis and was initially treated with carbimazole followed by radio-iodine ablation of the thyroid. Thyroxine was commen...