2Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor β (TRβ) gene. On the basis of its clinical features, two different forms of this syndrome have been described: generalized resistance and pituitary resistance. A total of 122 TRβ gene mutations have been identified thus far. A 38-year-old woman presented with intermittent palpitation. Thyroid function tests revealed elevated levels of free T4 and TSH. TSH α-subunit levels were 0.41 mIU/mL, and magnetic resonance images of the sellar region evidenced no abnormal findings. The TSH response to TRH stimulation was found to be normal. The sequence analysis of the TRβ gene verified a missense mutation in exon 11, and the observed amino acid alteration was a substitution of a valine for a methionine at codon 349. We report the first case of a woman with RTH, which was found to be caused by a missense mutation (V349M) in the TRβ gene.

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Tracheomegaly is a distinctive condition that presents with marked dilation of the trachea. Spontaneous pneumomediastinum is the result of alveolar rupture with dissection of the airway along the bronchus and into the mediastinum. Tracheomegaly and recurrent spontaneous pneumomediastinum are rare complications of pulmonary fibrosis when combined with rheumatoid arthritis. We present a case of tracheomegaly and recurrent spontaneous pneumomediastinum that was precipitated by repeated respiratory infection and chronic cough in a patient with pulmonary fibrosis that was associated with rheumatoid arthritis. (Tuberc Respir Dis 2008;64:144-148)

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