McDermott M T, Ridgway E C
Endocrinology Service, Fitzsimons Army Medical Center, Aurora, Colorado 80045-5001.
Am J Med. 1993 Apr;94(4):424-32. doi: 10.1016/0002-9343(93)90155-i.
The thyroid hormone resistance syndromes are disorders in which the body's tissues are resistant to the effects of thyroid hormone. Generalized resistance to thyroid hormone (GRTH) is characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. Affected individuals have elevated serum thyroid hormone levels and inappropriately normal or elevated thyroid-stimulating hormone (TSH) but are usually clinically euthyroid and require no treatment. Selective pituitary resistance to thyroid hormone (PRTH) is characterized by resistance in the pituitary gland but not in peripheral tissues. Patients have elevated serum thyroid hormone levels and normal or elevated TSH levels and are clinically thyrotoxic. Therapy is usually necessary, but current choices are not completely satisfactory. Selective peripheral resistance to thyroid hormone (PerRTH) is characterized by resistance in peripheral tissues but not in the pituitary. The only patient thus far described had normal serum thyroid hormone and TSH levels but was clinically hypothyroid and improved with thyroid hormone administration. All of these disorders are probably more common than is generally recognized and are often misdiagnosed and inappropriately treated. GRTH, in most cases studied, results from a mutation in the thyroid hormone receptor beta gene causing an amino acid substitution in or a partial or complete deletion of the thyroid hormone-binding domain of the receptor. The causes of PRTH and PerRTH remain to be determined.
甲状腺激素抵抗综合征是一类机体组织对甲状腺激素作用产生抵抗的疾病。全身性甲状腺激素抵抗（GRTH）的特征是垂体以及大部分或所有外周组织存在抵抗。受影响个体的血清甲状腺激素水平升高，促甲状腺激素（TSH）水平不适当正常或升高，但通常临床甲状腺功能正常，无需治疗。选择性垂体性甲状腺激素抵抗（PRTH）的特征是垂体存在抵抗而外周组织不存在抵抗。患者血清甲状腺激素水平升高，TSH水平正常或升高，临床有甲状腺毒症。通常需要治疗，但目前的治疗选择并不完全令人满意。选择性外周性甲状腺激素抵抗（PerRTH）的特征是外周组织存在抵抗而垂体不存在抵抗。迄今为止所描述的唯一患者血清甲状腺激素和TSH水平正常，但临床有甲状腺功能减退，给予甲状腺激素后病情改善。所有这些疾病可能比普遍认为的更为常见，常常被误诊和不恰当地治疗。在大多数研究病例中，GRTH是由甲状腺激素受体β基因的突变引起的，该突变导致受体的甲状腺激素结合域发生氨基酸替代、部分或完全缺失。PRTH和PerRTH的病因仍有待确定。
