Oliveira Alexandre Machado Silva de, Motti Viviane, Casemiro Jessica, Rende Pedro Resende, Andrade Caio Leônidas Oliveira de, Fernande Luciene da Cruz, Ramos Helton Estrela
Faculdade de Medicina, Universidade Federal da Bahia, Salvador, BA, Brasil.
Departamento de Biorregulação, Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, BA, Brasil.
Arch Endocrinol Metab. 2025 Feb 13;69(1):e240078. doi: 10.20945/2359-4292-2024-0078.
The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however, the long-term impact of insufficient thyroid hormone action in the auditory system remains unknown. Subjects with RTH from the same family, carrying a THRB gene variant, underwent detailed clinical evaluation and serum biochemistry analysis. The genetic assessment involved sequencing of the THRB gene. Hearing loss assessment included (i) meatoscopy, (ii) audiometric tests using pure tone audiometry, (iii) middle ear evaluation by tympanometry, (iv) transient otoacoustic emissions (TOAE), and (v) computed tomography of the mastoids. Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. All affected subjects had clinical and laboratory RTH features. Notably, the older subject with RTH was affected by a bilateral sensorineural hearing loss pattern affected by high frequencies, and cochlear dysfunction was also presented by TOAE analysis, indicating pronounced hearing loss. Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments. These findings underscore the importance of lifelong monitoring, particularly to assess age-related progression of hearing impairment.
本研究的目的是调查甲状腺激素抵抗（RTH）综合征的长期听力学后果。耳蜗和内耳在发育阶段表达甲状腺激素受体β（THRB）。RTH综合征患者常出现听力损失；然而，甲状腺激素作用不足在听觉系统中的长期影响仍不清楚。来自同一家族、携带THRB基因变异的RTH患者接受了详细的临床评估和血清生化分析。基因评估包括THRB基因测序。听力损失评估包括：（i）耳镜检查；（ii）使用纯音听力计进行听力测试；（iii）通过鼓室图进行中耳评估；（iv）瞬态耳声发射（TOAE）；以及（v）乳突计算机断层扫描。基因测序证实了三名家庭成员的THRB基因改变（p.M442T）。所有受影响的受试者都有临床和实验室RTH特征。值得注意的是，患有RTH的老年受试者受到高频双侧感音神经性听力损失模式的影响，并且TOAE分析也显示出耳蜗功能障碍，表明存在明显的听力损失。听力损失是RTH患者的一个重大问题，强调了持续和全面听力学评估的必要性。这些发现强调了终身监测的重要性，特别是为了评估与年龄相关的听力障碍进展。
