Division of Endocrinology, Diabetes, and Metabolism, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA.
Thyroid. 2011 May;21(5):559-61. doi: 10.1089/thy.2010.0450.
Resistance to thyroid hormone (RTH) is a rare syndrome of reduced TH sensitivity most often due to mutations affecting the β-isoform of the thyroid hormone receptor (TRβ). Patients with RTH may develop hypothyroidism as a result of surgery, mistreatment with radioiodine, or autoimmune thyroid disease.
We describe a patient who underwent partial thyroid lobectomy for benign goiter at age 17 and remained healthy through five uncomplicated pregnancies before abnormal laboratory results were noted. She was followed by multiple consecutive specialists after age 40, intermittently treated with levothyroxine, and referred to our clinic at age 66 because of severe progressive fatigue and abnormal thyroid function tests. Initial workup revealed elevated TH levels and inappropriately elevated thyroid-stimulating hormone. TH levels progressively declined into the normal range, accompanied by marked thyroid-stimulating hormone elevation. Antibody testing and thyroid biopsy confirmed Hashimoto's thyroiditis, and genetic testing revealed a TRβ mutation. Patient response to TH therapy has been good although limited by palpitations.
Patients with RTH may develop significant hypothyroidism with normal TH levels in the setting of Hashimoto's thyroiditis. RTH presents a unique challenge in both the diagnosis and management of autoimmune hypothyroidism.
甲状腺激素抵抗（RTH）是一种罕见的 TH 敏感性降低综合征，最常见于影响甲状腺激素受体（TRβ）β-异构体的突变。RTH 患者可能因手术、放射性碘治疗不当或自身免疫性甲状腺疾病而出现甲状腺功能减退。
我们描述了一位患者，她在 17 岁时因良性甲状腺肿接受了部分甲状腺叶切除术，在 40 岁之前通过五次无并发症的妊娠保持健康，之后因实验室结果异常而被多位连续专家随访。她在 40 岁后间歇性地接受左甲状腺素治疗，并在 66 岁时因严重进行性疲劳和甲状腺功能检查异常而转至我们的诊所。初步检查显示 TH 水平升高和促甲状腺激素水平不适当升高。TH 水平逐渐降至正常范围，同时促甲状腺激素水平显著升高。抗体检测和甲状腺活检证实为桥本甲状腺炎，基因检测显示 TRβ 突变。尽管患者因心悸而受到限制，但对 TH 治疗的反应良好。
在桥本甲状腺炎的情况下，RTH 患者可能会出现明显的甲状腺功能减退症，而 TH 水平正常。RTH 在自身免疫性甲状腺功能减退症的诊断和管理方面均带来独特挑战。
