Mixed hearing loss in children: Etiology, management, and audiological outcomes

Objectives: Mixed hearing loss (MHL), defined as the coexistence of conductive and sensorineural components, remains insufficiently characterized in the pediatric population. This study aimed to investigate the etiology, audiological characteristics, management strategies, and 1-year hearing outcomes in children with MHL. Methods: The medical charts of children aged 5-12 years with HL referred to a tertiary-level audiologic center between January 1, 2017, and August 31, 2025, were reviewed. The study specifically included children with MHL, and demographic, clinical, audiological (baseline and 1-year follow-up), radiological, and genetic data were analyzed. Results: Of 5618 first visits for pediatric HL, 129 children (mean age: 88.3 ± 26.0 months; 53.5% male) met the inclusion criteria. Pathogenic genetic variants were identified in 50 children (38.8%), with most cases (88.0%) associated with syndromic conditions, primarily Branchio-Oto-Renal, CHARGE, Down, and Pendred syndromes. Children with syndromic MHL showed a significantly higher prevalence of otologic malformations (72.7% vs. 40.0%, P < 0.001) and chronic or recurrent otitis media (84.1% vs. 23.5%, P < 0.001). Treatment of MHL included hearing devices in 57.4% of cases and middle ear surgery in 34.9%. The mean pure-tone average (PTA- 4) improved significantly from 60.3 ± 19.3 dB HL at baseline to 54.6 ± 25.8 dB HL at the 1-year follow-up (P < 0.001). Conclusion: This study is the first to focus exclusively on pediatric MHL and demonstrates that MHL is a highly heterogeneous condition frequently associated with genetic syndromes. Long-term audiological follow-up and a personalized therapeutic approach are essential for the optimal management of children with MHL.