Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
Endocrine. 2021 Mar;71(3):689-695. doi: 10.1007/s12020-020-02603-y. Epub 2021 Mar 1.
Defective thyroid hormone transport due to deficiency in thyroid hormone transporter monocarboxylate transporter 8 (MCT8) results in severe neurodevelopmental delay due to cerebral hypothyroidism and in clinical negative sequelae following a chronic thyrotoxic state in peripheral tissues. The life expectancy of patients with MCT8 deficiency is severely impaired. Increased mortality is associated with lack of head control and being underweight at young age. Treatment options are available to alleviate the thyrotoxic state; particularly, treatment with the thyroid hormone analogue triiodothyroacetic acid seems a promising therapy. This review provides an overview of key clinical features and treatment options available and under development for this rare disorder.
由于甲状腺激素转运蛋白单羧酸转运蛋白 8（MCT8）的缺乏导致甲状腺激素转运缺陷，会导致大脑甲状腺功能减退引起的严重神经发育迟缓，并在周围组织发生慢性甲状腺毒症后出现临床负面后遗症。MCT8 缺乏症患者的预期寿命严重受损。死亡率增加与年龄较小的头部控制不佳和体重不足有关。有治疗选择可缓解甲状腺毒症；特别是使用甲状腺激素类似物三碘甲状腺原氨酸似乎是一种有前途的治疗方法。这篇综述提供了对这种罕见疾病的关键临床特征和现有及正在开发的治疗选择的概述。
