Abstract

To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies. Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow-up in 2015. Of 168 girls, median age 27.3 (3.8-47.2) years, ear problems occurred more frequently with 45,X and 45,X/46,XiXq than other karyotypes: 71/103 (69%) versus 23/65 (35%). Recurrent acute otitis media (AOM) first developed at 0-5years in 23 (40%) girls, persisting in 16 (10%) at 5-10years; and first developing at 5-10years in 11 (7%). Persistent otitis media with effusion (OME) first developed at 0-5 and 5-10years in 23 (40%) and 14 (8%) girls. Recurrent AOM was significantly linked with cholesteatoma in 8 (4.9%) girls (7 aged >10years). Permanent hearing loss was documented in 28 girls (16.7%), with 16 (9.5%) receiving hearing aids (bone-anchored in 3). Acute otitis media and OME occur commonly in preschool TS girls and may persist or newly develop in later childhood. Recurrent AOM predisposes to cholesteatoma. Strategies to reduce otological morbidity include: intensive patient education, annual audiology, vaccinations and a randomised trial of antibiotic prophylaxis in high-risk groups.

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