Thyroid Hormone Resistance Syndrome: A Case Report

Shih-Hui Huang ； Chung-Yen Huang ； Shih-Ming Lai ； Yen-Ling Chen ； Hong-Da Lin ； Pei-Chi Chen

《Formosan Journal of Endocrinology and Metabolism》 7卷1期 (2016/06) Pp. 34-38

https://doi.org/10.6856/FJEM.201606_7(1).0006

摘要

Background. Resistance to thyroid hormone (RTH) is the most common form of impaired sensitivity to thyroid hormone. It is an autosomal dominant disease. Most RTH is caused by mutation of thyroid hormone receptor β gene, leading to defects in thyroid hormone action. The hallmark of RTH is paucity of symptoms and signs despite of high serum triiodothyronine and thyroxine (T4) concentrations. The most common symptoms, if present, are goiter, tachycardia, and hyperactivity. Methods. We present a case of suspected RTH. Results. A 19-year-old man presented with hand tremor and tachycardia. Lab data showed elevated free T4 with nonsuppressed thyroid-stimulating hormone (TSH). There was neither pituitary tumor nor pituitary axis dysfunction. Thyrotropin-releasing hormone (TRH) stimulation test revealed normal response. As a result, RTH was highly suspected. We had tried levothyroxine 0.1 mg/day, but the TSH level had not been suppressed. Conclusion. In addition to pituitary TSH-secreting tumor, our case highlights that RTH should be considered in the differential diagnosis for a case of elevated free T4 with nonsuppressed TSH.

關鍵字

thyroid hormone resistance syndrome ； thyroid hormone receptors beta ； thyrotoxicosis