Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
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DOI：
10.1186/s12902-015-0081-7
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发表时间：
2016-01-12
影响因子：
2.7
通讯作者：
Takeuchi Y
中科院分区：
文献类型：
--
作者：
Maruo Y;Mori A;Morioka Y;Sawai C;Mimura Y;Matui K;Takeuchi Y
甲状腺激素β抵抗（RTH β）是一种罕见的显性遗传综合征，由甲状腺激素受体β基因（THRB）突变引起。在严重的情况下，它很少是具有挑战性的控制症状，使用每日治疗性替代甲状腺激素。本病例研究涉及一名8岁日本女孩，患有重度RTH表型（TSH、fT3和fT4分别为34.0 mU/L、> 25.0 pg/mL和> 8.0 ng/dL），由甲状腺激素受体β基因（THRB）第10外显子c.1347 - 1357 del actcttccccc：p.E449DfsX11的新型杂合移码突变引起。在新生儿筛查项目中检测到RTH。在4岁时，尽管每天接受甲状腺素（L-T4）治疗，患者仍持续患有精神发育迟滞、多动、失眠和静息能量消耗（REE）减少。隔日高剂量碘甲状腺原氨酸（L-T3）治疗改善了她的症状，增加了她的REE，没有甲状腺毒症。在严重的RTH的情况下，每隔一天的L-T3管理增强REE和精神发育，而不促进甲状腺毒症的症状。隔日给予L-T3可能是治疗重度RTH的有效策略。
Resistance to thyroid hormone beta (RTHβ) is a rare and usually dominantly inherited syndrome caused by mutations of the thyroid hormone receptor β gene (THRB). In severe cases, it is rarely challenging to control manifestations using daily therapeutic replacement of thyroid hormone. The present case study concerns an 8-year-old Japanese girl with a severe phenotype of RTH (TSH, fT3, and fT4 were 34.0 mU/L, >25.0 pg/mL and, >8.0 ng/dL, respectively), caused by a novel heterozygous frameshift mutation in exon 10 of the thyroid hormone receptor beta gene (THRB), c.1347-1357 del actcttccccc : p.E449DfsX11. RTH was detected at the neonatal screening program. At 4 years of age, the patient continued to suffer from mental retardation, hyperactivity, insomnia, and reduced resting energy expenditure (REE), despite daily thyroxine (L-T4) therapy. Every-other-day high-dose liothyronine (L-T3) therapy improved her symptoms and increased her REE, without thyrotoxicosis. In a case of severe RTH, every-other-day L-T3 administration enhanced REE and psychomotor development, without promoting symptoms of thyrotoxicosis. Every-other-day L-T3 administration may be an effective strategy for the treatment of severe RTH.