【由于先前未描述的THRA基因突变引起的甲状腺激素抵抗综合征一例】。

Y L Skorodok, T S Grabchak, E V Plotnikova, E N Suspitsin, I Y Ioffe, A V Kozhevnikova, V D Zabinsky, D O Ivanov
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引用次数: 0

摘要

甲状腺激素抵抗(THR)综合征的特点是外周组织对活性形式的甲状腺激素的敏感性降低。我们提出一个临床病例的病人,表现出甲状腺功能减退的症状,而有亚正常FT4和正常TSH和总T3水平。大量平行测序使我们能够鉴定出一种以前未描述的杂合THRA c.1198C>G (p.l u400val)变体,该变体是从头产生的。基因检测结果与患者的表型吻合良好,从而可以验证THR的诊断。左甲状腺素替代治疗没有显著的临床改善;超生理剂量的使用导致脂质谱的改善,但伴随着甲状腺毒症的一些症状的出现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

[A case of thyroid hormone resistance syndrome due to previously undescribed mutation in the <i>THRA</i> gene].

[A case of thyroid hormone resistance syndrome due to previously undescribed mutation in the THRA gene].

Thyroid hormone resistance (THR) syndrome is characterized by decreased sensitivity of peripheral tissues to active forms of thyroid hormones. We present a clinical case of a patient, demonstrating symptoms of hypothyroidism while having subnormal FT4 and normal TSH and total T3 levels. Massive parallel sequencing allowed us to identify a previously undescribed heterozygous THRA c.1198C>G (p.Leu400Val) variant that arose de novo. The results of genetic testing corresponded well with the patient's phenotype that made it possible to verify the diagnosis of THR. Levothyroxine replacement therapy did not resulted in a significant clinical improvement; the use of supraphysiological doses led to refinement of the lipid profile but was accompanied by the appearance of some symptoms of thyrotoxicosis.

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