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Background <p>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.</p> <p>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.</p> Results <p>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.</p> Conclusion <p>The findings highlight the importance of early audiological screening and follow-up in TS patients to prevent communication impairments and enhance quality of life.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月19日

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  • Hebatallah M Hassaan,
  • Hala A ElGindy,
  • Kariman EL Hamamsy,
  • Eman Mahmoud Hassan Eldeeb,
  • Hussein Sherif Hamdy,
  • Abdulrahman Nabil Fathi Abdulghffar,
  • Radwa Mohamed

摘要

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.