High frequency hearing loss in Ullrich-Turner syndrome

A total of 38 patients with Ullrich-Turner syndrome underwent standard otological and audiometric evaluation as well as high frequency audiological tests. Some 26 (68.4%) patients had a history of middle ear infections, and ten (26.3%) had required otolaryngological surgery. Conventional audiometry (125-8000 Hz) demonstrated normal hearing in only 25 of the ears (33%); between 500-4000 Hz, 16 ears (21.0%) had a mixed type and eight ears (10.5%) had conductive hearing loss. High frequency audiometry (8-18 kHz) revealed sensorineural hearing loss in 98.7% of the ears. Our results for conventional audiometry are in accordance with the literature.

The detection of a high prevalence of hearing loss in the high frequency range brings a significant new perspective to the pursuit of the aetiology of ear and hearing problems in Ullrich-Turner syndrome. This pathology seems to be a premature variant of presbycusis and it may underlie future hearing impairment which will come to clinical attention only after it progresses to conventional testing frequencies. While further studies are underway to evaluate this aspect, routine otological and audiological follow-up of patients with Ullrich-Turner syndrome is warranted from the time of diagnosis.