Purpose: The purpose of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Turner syndrome (TS) and to determine whether these characteristics correlated with the patient karyotype and age.
Method: This was a cross-sectional prospective study. The participants underwent an audiological evaluation, including pure-tone audiometry, speech audiometry, and acoustic immittance measures.
Results: This study included 52 patients with TS (mean age = 19 years, SD = 6 years, range = 7-37 years). The majority of these patients had a decline in pure-tone thresholds at 8000 Hz, and most also had mild to moderate hearing loss. Most patients had normal tympanometric results. More than 80% of patients had acoustic reflexes present at 500, 1000, and 2000 Hz frequencies bilaterally, but less than 50% of the patients displayed an acoustic reflex at 4000 Hz bilaterally. The hearing loss was more prevalent in patients with a 45,X karyotype and isochromosomes as compared to patients with mosaicism.
Conclusion: The results showed that TS patients with a 45,X karyotype and isochromosomes with loss of the p-arm of the X chromosome had a greater risk of developing hearing loss than patients with mosaicism. There was a linear association between hearing loss and age in these patients.