A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report.
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report.
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DOI：
10.1186/1752-1947-6-246
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发表时间：
2012-08-20
影响因子：
1
通讯作者：
Koga Y
中科院分区：
文献类型：
--
作者：
Yatsuga S;Hiromatsu Y;Sasaki S;Nakamura H;Katayama K;Nishioka J;Koga Y
甲状腺激素抵抗是由甲状腺激素受体β突变引起的综合征，通常以常染色体显性模式遗传。我们的病人，一个日本新生儿男孩，在两天大时出现甲状腺功能亢进症状。虽然我们的病人被诊断为甲状腺激素抵抗，他的甲状腺功能亢进症状持续了两个星期。因此，我们的病人从出生开始就接受了两周的甲巯咪唑和碘治疗，治疗后没有出现任何副作用和症状。在70天的年龄，在我们的患者中检测到甲状腺激素受体β的R243 W突变;虽然他的母亲没有突变，但他的父亲存在突变，他从未表现出任何症状。据我们所知，这是第一例报告甲状腺激素抵抗的新生儿出现甲状腺功能亢进症状，母亲患有Graves病，并接受甲巯咪唑和碘治疗。这些结果表明，甲巯咪唑和碘可能是一个很好的短期治疗选择。
Resistance to thyroid hormone is a syndrome caused by thyroid hormone receptor β mutations, which are usually inherited in an autosomal-dominant pattern. Our patient, a Japanese neonate boy, showed hyperthyroid symptoms at age two days. Although our patient was diagnosed as having resistance to thyroid hormone, his hyperthyroid symptoms continued for two weeks. Therefore, our patient was treated with methimazole and iodine for two weeks from birth, showing no side effects and no symptoms upon treatment. At age 70 days, an R243W mutation in thyroid hormone receptor β was detected in our patient; while absent in his mother, the mutation was present in his father, who never showed any symptoms. To the best of our knowledge this is the first case report of a resistance to thyroid hormone in a neonate presenting with hyperthyroid symptoms born to a mother with Graves’ disease and treated with methimazole and iodine. These results suggest that methimazole and iodine may be a good short-term option for treatment.