Lee Jae Hee, Kim Eun Young
Department of Pediatrics, Chosun University School of Medicine, Gwangju, Korea.
Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):229-31. doi: 10.6065/apem.2014.19.4.229. Epub 2014 Dec 31.
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THRβ confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
甲状腺激素抵抗（RTH）是一种罕见的遗传性综合征，其特征是靶组织对甲状腺激素的反应减弱，在大多数情况下，是由甲状腺激素受体β（THRβ）基因突变引起的。尽管血清游离甲状腺激素和促甲状腺激素（TSH）水平升高，但甲状腺功能障碍的症状和体征较少提示RTH。我们报告一例9岁甲状腺肿大女孩的病例。她的甲状腺功能检查显示血清游离甲状腺素、三碘甲状腺原氨酸和TSH水平升高。THRβ的基因分析证实外显子9有一个新突变；这是第327密码子处的杂合C到T变化，导致异亮氨酸被苏氨酸替代（T327I）。
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