Tian Yuan, Shao Yanxuan, Mei Yazhao, Jiang Yunyi, Zhang Zhenlin, Zhang Hao
Department of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Eur Arch Otorhinolaryngol. 2025 Apr 12. doi: 10.1007/s00405-025-09390-0.
Osteogenesis imperfecta (OI) is a genetic connective tissue disorder primarily characterized by bone fragility. Hearing loss is an extra-skeletal manifestation of OI. This study aims to characterize the audiological findings of a sample of patients with OI in China.
A total of 76 patients (aged 4-77 years) were recruited and evaluated using audiometric evaluations, including pure tone audiometry (PTA), acoustic admittance measurements, and distortion-product otoacoustic emissions (DPOAEs). Patients were categorized into 2 age groups: adults (more than 18 years) and children (under 18 years), and classified by hearing type: normal hearing, conductive, sensorineural, or mixed hearing loss.
Tympanometry (152 ears) showed 71.7% Type A tympanograms. There was a significant association between tympanogram type and hearing loss (p < 0.01). DPOAEs were predominantly abnormal in ears with sensorineural and mixed hearing loss (p < 0.01). PTA (146 ears) revealed hearing loss in 39.0%: 16.4% conductive, 15.1% sensorineural, and 7.5% mixed. Age correlated significantly with hearing loss type (p < 0.01). Adults' group exhibited higher pure-tone averages (11.3 dB vs. 8.8 dB, p < 0.01), average air-bone gap (2.5 dB vs.2.5 dB, p < 0.05), and bone conduction thresholds than children's group.
Hearing loss is common and progressive in Chinese OI patients, with a significant age-related increase in both the prevalence and severity of hearing loss. Establishing a hearing baseline and regular follow-up is essential for early intervention.
成骨不全症（OI）是一种遗传性结缔组织疾病，主要特征为骨质脆弱。听力损失是OI的一种骨骼外表现。本研究旨在描述中国成骨不全症患者样本的听力学检查结果。
共招募76例患者（年龄4 - 77岁），并使用听力测试评估，包括纯音听力测定（PTA）、声导纳测量和畸变产物耳声发射（DPOAE）。患者分为两个年龄组：成人（18岁以上）和儿童（18岁以下），并按听力类型分类：正常听力、传导性、感音神经性或混合性听力损失。
鼓室图检查（152耳）显示71.7%为A型鼓室图。鼓室图类型与听力损失之间存在显著关联（p < 0.01）。感音神经性和混合性听力损失的耳中，DPOAE主要异常（p < 0.01）。PTA（146耳）显示39.0%存在听力损失：16.4%为传导性，15.1%为感音神经性，7.5%为混合性。年龄与听力损失类型显著相关（p < 0.01）。成人组的纯音平均听阈（11.3 dB对8.8 dB，p < 0.01）、平均气骨导差（2.5 dB对2.5 dB，p < 0.05）和骨导阈值均高于儿童组。
中国成骨不全症患者中听力损失常见且呈进行性，听力损失的患病率和严重程度均随年龄显著增加。建立听力基线并定期随访对于早期干预至关重要。
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