전신성 갑상선호르몬 저항 증후군 1예

Abstract

The syndrome of resistance to thyroid hormone are disorders in which the body's tissue are resistant to the effects of thyroid hormone. They are characterized by reduced clinical and biochemical manifestations of thyroid hormone action relative to the circulating hormone levels. In practice, such patients are identified because they have increased serum thyroxine (T₃) and triiodothyronine (T₄) and normal thyrotropin (TSH) levels in the absence of intercurrent acute illness, drugs, or alterations of thyroid hormone binding to serum proteins. Since the publication of the index cases in 1967 by Refetoff et al., about 200 cases have been reported. Mutations which result in single amino acid substitutions in the T₃ binding region of the β receptor molecule is suggested for causal mechanism. We experienced a case of 26 year old female with generalized resistance to thyroid hormone. She had increased serum concentration of free thyroxine (fT₄ 5.42 ng/dl) and triiodothyronine (T₃>800ng/dl). Serum TSH level were increased (TSH: 2.08 μIU/ml). The serum α-subunit/TSH molar ratio was less than 1.0 and Magnetic Resonance Imaging showed no evidence of pituitary mass. These features are characteristics of the syndrome of generalized resistance to thyroid hormone. So we present this case of syndrome of generalized resistance to thyroid hormone with a literature review.