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Updated: Jun 29, 2025

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一个THRβ突变患者的有效TRIAC治疗,该患者患有甲状腺激素耐药性
A Carbone1, A Verrienti2, D S Cito1
1Endocrine Unit- Asm Matera, Rome, Italy.
Endocrine
|April 1, 2024
概括
对甲状腺激素 (RTH) 的耐药性是一种罕见的遗传疾病,呈现出各种症状. 一名患有RTHβ的患者因自身免疫性甲状腺功能增强症的发展而经历了治疗失败,突出显示了疾病机制的演变.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 对甲状腺激素 (RTH) 的耐药性是一种罕见的自体主导性疾病.
- 它是由甲状腺激素受体-β (THRβ) 基因的突变引起的,影响甲状腺激素反.
- 临床表现非常不同,从无症状的甲状腺功能障碍到严重的症状.
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