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. 2025 Apr 12.
doi: 10.1007/s00405-025-09390-0. Online ahead of print.

Hearing loss in Chinese osteogenesis imperfecta patients

Yuan Tian  1 , Yanxuan Shao  1 , Yazhao Mei  1 , Yunyi Jiang  1 , Zhenlin Zhang  2 , Hao Zhang  3
Affiliations

Hearing loss in Chinese osteogenesis imperfecta patients

Yuan Tian et al. Eur Arch Otorhinolaryngol. .

Abstract

Propose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Audiometric evaluations; Hearing loss; Osteogenesis imperfecta; Pure tone audiometry.

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Conflict of interest statement

Declarations. Ethical approval: This study has been registered with the Chinese Clinical Trial Registry (NO. ChiCTR2300074207). This study involving humans was approved by the Ethics Committee of the Shanghai Jiao Tong University affiliated Sixth People’s Hospital. Written informed consent for participation in this study was provided by the participants’ legal guardians/next of kin. All procedures performed in studies involving human participants were in accordance with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Conflict of interest: On behalf of all authors, the corresponding author states that there is no conflict of interest.

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