Etiology, Diagnosis, and Treatment of Congenital Hearing Loss

A special issue of Journal of Otorhinolaryngology, Hearing and Balance Medicine (ISSN 2504-463X). This special issue belongs to the section "Otology and Neurotology".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 1186

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Guest Editor
Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
Interests: endoscopic ear surgery; genetic hearing loss; cochlear immune response and inflammation
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Special Issue Information

Dear Colleagues,

Congenital hearing loss, among the most common types of hearing loss, is influenced by genetic characteristics, biological factors, behavioral factors, and environmental factors. Thus, the early detection of hearing loss and the accurate identification of its etiology are required to guide doctors in making treatment decisions for congenital hearing loss. In recent years, a deeper understanding of the pathogenic mechanisms of congenital hearing loss and advances in biomedical technologies have further facilitated the development of new diagnostic and therapeutic strategies. This Special Issue focuses on the current status and development of the etiology, diagnosis, and treatment of congenital hearing loss, aiming to collect research on the genetics and molecular mechanisms, associated environmental and behavioral risk factors, the development and application of early diagnostic techniques, therapeutic approaches and clinical studies of congenital hearing loss, and innovative applications of biomedical technologies in the field of congenital hearing loss.

You may choose our Joint Special Issue in Diagnostics.

Prof. Dr. Yu Sun
Guest Editor

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Keywords

  • congenital hearing loss
  • etiology
  • diagnosis
  • treatment

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Published Papers (1 paper)

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8 pages, 3914 KB  
Case Report
A Humanized Anti-IL-4Rα Monoclonal Antibody Improves Aural Fullness
by Yiyun Zhang, Mengwen Shi, Yan Zhou, Jianjun Chen, Huabin Li and Yu Sun
J. Otorhinolaryngol. Hear. Balance Med. 2025, 6(2), 21; https://doi.org/10.3390/ohbm6020021 - 21 Nov 2025
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Abstract
Background and Clinical Significance: Otitis media with effusion (OME) is characterized by persistent middle ear effusion without acute infection. Type 2 inflammation, mediated by IL-4 and IL-13 signaling via the IL-4Rα receptor, has been implicated in the pathogenesis of chronic rhinosinusitis with [...] Read more.
Background and Clinical Significance: Otitis media with effusion (OME) is characterized by persistent middle ear effusion without acute infection. Type 2 inflammation, mediated by IL-4 and IL-13 signaling via the IL-4Rα receptor, has been implicated in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP), asthma, and possibly OME. Refractory OME in adults remains a therapeutic challenge, as conventional treatments often fail to achieve long-term resolution. Targeted biologic therapies that modulate type 2 inflammation may offer a novel treatment option. Case Presentation: We report the case of a 60-year-old man with a 15-year history of allergic rhinitis and CRSwNP, complicated by recurrent asthma exacerbations, who presented with bilateral aural fullness, hearing loss, and tinnitus. His symptoms persisted despite repeated tympanic punctures, Eustachian tube insufflation, and corticosteroid therapy. Otoscopy revealed dull tympanic membranes with effusion, and audiometry showed conductive hearing loss with a B-type tympanogram on the left. Laboratory findings demonstrated mild peripheral eosinophilia. The patient was diagnosed with OME, likely secondary to type 2 inflammation. After nine biweekly injections of Stapokibart (CM310)—a humanized monoclonal antibody targeting IL-4Rα—aural fullness completely resolved. Otoscopic findings and tympanograms normalized, and hearing thresholds improved significantly. Retrospective evaluation using Iino’s diagnostic framework suggested that the patient did not meet the full criteria for eosinophilic otitis media (EOM); nevertheless, marked symptomatic and functional improvement was achieved. No recurrence or adverse effects were observed during follow-up. Conclusions: This case suggests that IL-4Rα blockade with Stapokibart may be effective in treating refractory OME associated with type 2 inflammation, even in patients who do not fulfill the diagnostic criteria for EOM. These findings highlight the potential of anti-IL-4Rα biologics as a novel therapeutic option for middle ear diseases driven by type 2 inflammation. Full article
(This article belongs to the Special Issue Etiology, Diagnosis, and Treatment of Congenital Hearing Loss)
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