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Resistance to thyroid hormone (RTH) is a genetic disorder characterized by reduced tissue responsiveness to thyroid hormone. We herein describe a 60-year old man who presented with the clinical features of cardiomyopathy, diabetes mellitus and elevated thyroid hormones with unsuppressed thyroid stimulating hormone. A genetic analysis of thyroid hormone receptor (TR) revealed a missense mutation (A268D) in the TRβ gene. Clinical manifestations of RTH may be variable due to different tissue distributions of TR subtypes and different actions of mutant receptors. The current case demonstrates that patients with a TRβ mutation may have impaired his glucose metabolism and a reduced cardiac function, although patients appear clinically euthyroid.

A 72-year-old man presented with bilateral eyelid swelling and redness. An orbital CT scan showed bilateral proptosis, extraocular muscle enlargement and swollen lacrimal glands, mimicking thyroid-associated orbitopathy (TAO) with Hashimoto's thyroiditis (HT). During the patient's clinical course, spontaneous remission of lung consolidation (35 × 26 mm) was seen. A diagnosis of IgG4-related disease (IgG4-RD) was made based on an elevated serum IgG4 level (1,020 mg/dL; normal, 4-108), predominance of IgG4-positive plasma cells (IgG4/IgG: 35/70 in HPF) in the lacrimal glands and typical features of Mikulicz's disease. This report provides a novel description of this unusual disease entity among HT, TAO and IgG4-RD.