Agrawal N K, Goyal R, Rastogi A, Naik D, Singh S K
Department of Endocrinology and Metabolism, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Postgrad Med J. 2008 Sep;84(995):473-7. doi: 10.1136/pgmj.2008.069740.
Thyroid hormone resistance (THR) is a rare syndrome of reduced end organ sensitivity. Patients with THR have elevated serum free thyroxine (FT4), free triiodothyronine (FT3), but normal or slightly elevated serum thyrotropin values. The characteristic clinical feature is goitre without symptoms and metabolic consequences of thyroid hormone excess. THR can be classified on the basis of tissue resistance into pituitary, peripheral or generalised (both pituitary and peripheral) types. Mutations in the TRbeta gene, cell membrane transporter and genes controlling intracellular metabolism of thyroid hormone have been implicated. THR is differentiated from thyroid stimulating hormone (TSH) secreting pituitary adenoma by history of THR in the family. No specific treatment is often required for THR; patients with features of hypo- or hyperthyroidism are appropriately treated with levo-triiodothyronine (L-T3), levo-thyroxine (L-T4), dextro-thyroxine(D-T4) or 3,3,5 triiodo-thyroacetic acid (TRIAC). The diagnosis helps in appropriate genetic counselling of the family.
甲状腺激素抵抗（THR）是一种终末器官敏感性降低的罕见综合征。THR患者血清游离甲状腺素（FT4）、游离三碘甲状腺原氨酸（FT3）升高，但血清促甲状腺素值正常或轻度升高。其特征性临床特征是甲状腺肿大，无甲状腺激素过量的症状和代谢后果。THR可根据组织抵抗分为垂体型、外周型或全身性（垂体和外周均有）类型。已发现TRbeta基因、细胞膜转运体以及控制甲状腺激素细胞内代谢的基因突变与之有关。通过家族中THR病史可将THR与分泌促甲状腺激素（TSH）的垂体腺瘤相鉴别。THR通常无需特殊治疗；有甲状腺功能减退或亢进特征的患者可适当使用左三碘甲状腺原氨酸（L-T3）、左甲状腺素（L-T4）、右旋甲状腺素（D-T4）或3,3,5-三碘甲状腺乙酸（TRIAC）进行治疗。该诊断有助于对家族进行适当的遗传咨询。
