Jaffiol C, De Boisvilliers F, Baldet L, Torresani J
Service d'Endocrinologie, Hôpital Lapeyronie, Montpellier.
Ann Endocrinol (Paris). 1991;52(6):393-6.
The syndrome of resistance to thyroid hormones may affect overall or only some tissues. The generalized resistance associates a familial eu or hypometabolic goiter, increased free thyroid hormones with normal or elevated plasma TSH levels. The inheritance of the disease is autosomal dominant in most of the patients. In vivo or in vitro tests may be used to assess the diagnosis. Therapy refers to high doses of T3 or T4. Pituitary resistance to thyroid hormones leads to hyperthyroidism with normal or high TSH levels. The treatment uses different TSH suppressive drugs. Peripheral resistance associates hypometabolism with normal T4-T3 secretion and needs high T3 doses for therapy. An inherited abnormality of T3 nuclear receptor seems to be the consequence of a mutant gene. Hypersensitivity to thyroid hormones associates hypermetabolism with low or normal free thyroid hormone levels and increased T3 nuclear receptors.
甲状腺激素抵抗综合征可能影响全身或仅某些组织。全身性抵抗伴有家族性甲状腺功能正常或减退性甲状腺肿、游离甲状腺激素升高且血浆促甲状腺激素（TSH）水平正常或升高。在大多数患者中，该病的遗传方式为常染色体显性遗传。可通过体内或体外试验来评估诊断。治疗方法是使用高剂量的三碘甲状腺原氨酸（T3）或甲状腺素（T4）。垂体性甲状腺激素抵抗导致甲状腺功能亢进且TSH水平正常或升高。治疗使用不同的TSH抑制药物。外周性抵抗伴有代谢减退，T4 - T3分泌正常，治疗需要高剂量的T3。T3核受体的遗传性异常似乎是突变基因的结果。甲状腺激素超敏反应伴有代谢亢进，游离甲状腺激素水平低或正常，且T3核受体增加。
