Department of Pediatrics, National Taiwan University Hospital and National, Taiwan University College of Medicine, Taipei, 100, Taiwan.
Department of Pediatrics, National Taiwan University Hospital and National, Taiwan University College of Medicine, Taipei, 100, Taiwan; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100, Taiwan.
J Formos Med Assoc. 2020 Oct;119(10):1546-1549. doi: 10.1016/j.jfma.2020.05.035. Epub 2020 Jun 3.
Resistance to thyroid hormone (RTH) is a rare congenital disorder characterized by impaired sensitivity of target tissues to thyroid hormone. The disease is mostly caused by heterozygous mutations of thyroid hormone receptor β (THRB) gene. We present a ten-year-old Taiwanese boy with goiter, mood disturbances and attention deficit hyperactivity disorder (ADHD). Blood tests showed elevated serum thyroxine (T4) and triiodothyronine (T3) levels with nonsuppressed thyrotropin (TSH) levels. Sella MRI failed to detect any pituitary adenoma. Initial treatment with anti-thyroid drugs resulted in increased TSH levels and goiter size. His medication was discontinued after his visit to our hospital for a second opinion. A thyrotropin-releasing hormone (TRH) stimulation test showed a normal TSH response to TRH stimulation. Molecular analysis identified a novel heterozygous THRB p.Val349Ala mutation. The patient attained normal growth and a paucity of symptoms without any medication during the follow-up period. We hope that the presentation of this case can make the early diagnosis of RTH possible so that inappropriate management of these patients can be avoided in the future.
抗甲状腺激素（RTH）是一种罕见的先天性疾病，其特征是靶组织对甲状腺激素的敏感性降低。该病主要由甲状腺激素受体β（THRB）基因突变引起。我们报告了一例 10 岁台湾男孩，其表现为甲状腺肿、情绪障碍和注意缺陷多动障碍（ADHD）。血液检查显示血清甲状腺素（T4）和三碘甲状腺原氨酸（T3）水平升高，促甲状腺素（TSH）水平未受抑制。鞍区 MRI 未能发现垂体腺瘤。最初使用抗甲状腺药物治疗导致 TSH 水平升高和甲状腺肿增大。在我院就诊后，他停止了药物治疗。促甲状腺激素释放激素（TRH）刺激试验显示 TSH 对 TRH 刺激的正常反应。分子分析发现了一种新的 THRB p.Val349Ala 突变杂合子。在随访期间，该患者无需任何药物治疗，生长正常，症状减轻。我们希望本病例的介绍可以实现 RTH 的早期诊断，从而避免未来对这些患者的不当管理。
