Fábrega-Torrano María, González-Aguado Rocío, Onecha Esther, Morales-Angulo Carmelo
Facultad de Medicina, Universidad de Cantabria, Santander, Spain.
Department of Otolaryngology, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria Spain.
Indian J Otolaryngol Head Neck Surg. 2025 Aug;77(8):3091-3098. doi: 10.1007/s12070-025-05638-7. Epub 2025 Jun 12.
Stickler syndrome type 1 (STL1) is an autosomal dominant genetic disorder that affects connective tissue with highly heterogeneous clinical manifestations, primarily at the ocular, orofacial, skeletal, and auditory levels. The aim of our study was to determine the variability of the auditory phenotype associated with pathogenic variants of the gene and its impact on long-term treatment and follow-up. A retrospective observational study was conducted on patients with a confirmed diagnosis of STL1 treated between 2018 and 2024 at the Otorhinolaryngology Department of the Marqués de Valdecilla University Hospital. The electronic medical records of the patients included in the study were reviewed to gather the following information: family history, age, sex, genetic variant of STL1, audiological test data, associated clinical manifestations, radiological tests, and treatment. Among the 8 patients included in the study, 6 (75%) exhibited hearing loss, with severity ranging from mild to profound. Of these, 4 (66.7%) had sensorineural hearing loss, 1 (16.7%) had conductive hearing loss, and 1 (16.7%) had a mixed type. The 4 patients with sensorineural hearing loss required hearing aid fitting, and one of them also needed a cochlear implant, showing significant improvement in language comprehension. Another patient required a mastoidectomy due to a cholesteatoma. The results of our study suggest that hearing loss in patients with STL1 is a common finding, predominantly sensorineural in nature and of variable intensity.
The online version contains supplementary material available at 10.1007/s12070-025-05638-7.
1型斯蒂克勒综合征（STL1）是一种常染色体显性遗传病，会影响结缔组织，临床表现高度异质性，主要累及眼部、口面部、骨骼和听觉系统。我们研究的目的是确定与该基因致病变异相关的听觉表型的变异性及其对长期治疗和随访的影响。对2018年至2024年在瓦尔迪西利亚侯爵大学医院耳鼻喉科接受治疗且确诊为STL1的患者进行了一项回顾性观察研究。对纳入研究的患者的电子病历进行了审查，以收集以下信息：家族史、年龄、性别、STL1的基因变异、听力测试数据、相关临床表现、影像学检查和治疗情况。在纳入研究的8例患者中，6例（75%）出现听力损失，严重程度从轻度到重度不等。其中，4例（66.7%）为感音神经性听力损失，1例（16.7%）为传导性听力损失，1例（16.7%）为混合性听力损失。4例感音神经性听力损失患者需要佩戴助听器，其中1例还需要植入人工耳蜗，语言理解能力有显著改善。另1例患者因胆脂瘤需要进行乳突切除术。我们的研究结果表明，STL1患者的听力损失是常见表现，主要为感音神经性，强度各异。
在线版本包含可在10.1007/s12070-025-056-7获取的补充材料。
