Chin Yik Hin, Anthony Bernard Dorothy Maria, Foo Siew Hui
Endocrinology, Diabetes, and Metabolism, Hospital Selayang, Selangor, MYS.
Endocrinology, Diabetes, and Metabolism, Hospital Selayang, Selayang, MYS.
Cureus. 2025 Jan 28;17(1):e78160. doi: 10.7759/cureus.78160. eCollection 2025 Jan.
Resistance to thyroid hormone (RTH) syndrome is characterized by reduced sensitivity to thyroid hormones (TH). It is an autosomal dominant genetic disease commonly caused by a mutation of the thyroid hormone receptor beta (THR-β) gene. Manifestations of RTH can be variable, as one can be clinically euthyroid to hyperthyroid or hypothyroid. We would like to share a case of resistance to thyroid hormone beta (RTH β) that presented with atrial fibrillation (AF) and was treated as Graves' disease with antithyroid drugs initially but was otherwise clinically euthyroid. The diagnosis was subsequently revised to RTH after a delay of more than eight years when the patient was referred to endocrinology for an aberrant thyroid function test with persistently raised TH and an unsuppressed thyrotropin level after performing the appropriate investigations. This case illustrates the challenge in diagnosing RTH in individuals with apparently preserved cardiac tissue TH sensitivity mimicking Graves' disease and the importance of recognition of RTH to avoid inappropriate therapy to suppress the compensatory increase in TH production to maintain the euthyroid state in affected individuals.
甲状腺激素抵抗（RTH）综合征的特征是对甲状腺激素（TH）的敏感性降低。它是一种常染色体显性遗传病，通常由甲状腺激素受体β（THR-β）基因突变引起。RTH的表现可能多种多样，因为患者在临床上可能甲状腺功能正常、甲状腺功能亢进或甲状腺功能减退。我们想分享一例甲状腺激素β抵抗（RTHβ）病例，该病例表现为心房颤动（AF），最初被误诊为格雷夫斯病并用抗甲状腺药物治疗，但临床上甲状腺功能正常。在患者因异常甲状腺功能检查被转诊至内分泌科，经过适当检查后发现甲状腺激素持续升高且促甲状腺素水平未被抑制，八年后诊断才被修正为RTH。该病例说明了在诊断RTH时面临的挑战，即个体心脏组织对甲状腺激素的敏感性看似正常，却表现出类似格雷夫斯病的症状；同时也强调了认识RTH的重要性，以避免不适当的治疗，即抑制甲状腺激素产生的代偿性增加，从而在受影响个体中维持甲状腺功能正常状态。
