Clinical and genetic insights into hearing loss in Turner syndrome: a study from an Egyptian cohort

Abstract Background Turner syndrome (TS) is associated with a high prevalence of hearing loss (HL), significantly impacting quality of life. This study evaluates the prevalence and characteristics of HL in TS patients in Egypt compared to healthy controls. Thirty TS patients diagnosed via karyotyping were recruited from genetics clinic, Cairo University and compared to 30 age- and sex-matched healthy controls. Audiological assessments included pure-tone audiometry, tympanometry, and auditory brainstem response. Results Hearing loss prevalence was significantly higher in TS patients compared to controls. Mid-frequency sensorineural hearing loss was the most common type, followed by mixed and conductive hearing loss. Hearing loss was associated with increased otitis media and delayed puberty but showed no significant correlation with karyotype subtype. Conclusion The findings highlight the importance of early audiological screening and follow-up in TS patients to prevent communication impairments and enhance quality of life.