Jiskra Jan, Límanová Zdeňka
Cas Lek Cesk. 2014;153(3):137-41.
Resistance to thyroid hormones (RTH) is a rare disease with prevalence 1 : 40 000-50 000. About 85% of cases are caused by mutation of thyroid hormone receptor gene β (TRβ) and in 15% of cases the mutation cannot be detected (nonTR-RTH). Elevated thyroid hormone and non-suppressed TSH in the blood, goitre and variable other clinical symptoms are typical for the disease. Manifestation is often mild and many cases may be even without clinical symptomatology. Cardiac symptoms (mainly dysrhythmias) may be confused with symptoms of hyperthyroidism. Different tissue sensitivity to thyroid hormones causes contemporary presence of symptoms of hypo- and hyperthyroidism. Differential diagnosis of RTH includes more prevalent causes of elevated thyroid hormones with non-suppressed TSH as drugs, non-compliance, biochemical interference and TSH-secreting pituitary adenoma. The treatment of RTH is symptomatic and thyroidectomy should be avoided, if it is possible. Recently, thyroid hormone analogues (e.g. 3,5,3´-trijodothyroacetát) can be used to normalize of thyroid parameters, alleviate of symptoms and achieve goitre regression.
甲状腺激素抵抗（RTH）是一种罕见疾病，患病率为1：40000 - 50000。约85%的病例由甲状腺激素受体基因β（TRβ）突变引起，15%的病例无法检测到突变（非TR - RTH）。血液中甲状腺激素升高且促甲状腺激素（TSH）未被抑制、甲状腺肿以及各种其他临床症状是该疾病的典型表现。症状通常较轻，许多病例甚至可能没有临床症状。心脏症状（主要是心律失常）可能与甲状腺功能亢进的症状相混淆。不同组织对甲状腺激素的敏感性导致同时出现甲状腺功能减退和亢进的症状。RTH的鉴别诊断包括更常见的导致甲状腺激素升高且TSH未被抑制的原因，如药物、治疗依从性差、生化干扰和分泌TSH的垂体腺瘤。RTH的治疗是对症治疗，如有可能应避免甲状腺切除术。最近，甲状腺激素类似物（如3,5,3´-三碘甲状腺乙酸）可用于使甲状腺参数正常化、缓解症状并使甲状腺肿消退。
