Endocrine Abstracts

Turner Syndrome (TS) is a multi-systemic genetic condition in females caused by partial or complete deletion of one X chromosome. It affects approximately 25-50 per 100,000 live births. Recent data shows that up to 60% of patients with TS will experience recurrent otitis media and 30% will suffer permanent hearing impairment. International guidelines recommend audiometric screening at diagnosis, every three years in childhood and at least every five years in adulthood for TS patients. In this retrospective review we aimed to assess the patterns of hearing loss with formal audiometric analysis in a cohort of adult females with confirmed TS attending a tertiary referral centre. Of three patients only nine (16.7%) had unimpaired hearing. A total of 24 patients had some hearing abnormality and one patient failed to attend for assessment. The majority of patients (n=18) had a sensorineural hearing loss pattern. Only one patient displayed solely conductive hearing loss and five patients had a mixed pattern. Mean age of patients with hearing loss was 39.3+10.6 years (versus 35.1+12.6 years in the total population and 23.7+7.4 years in the population with normal hearing). This is in keeping with the known natural history of TS where recurrent otitis media leads to eventual cochlear damage as the patient gets older. Patients with hearing loss were also more likely to have cardiac abnormalities (45.8% vs 22%; P=0.67) and thyroid function abnormalities (50% vs 44%; P=0.77) than TS patients with normal hearing profiles. Of the patients with normal hearing one patient had a 45XO karyotype and the remaining eight were all mosaic karyotypes. In the group with hearing impairment four patients had 45XO karyotype, twelve had mosaic patterns and the remainder had an unknown karyotype. Of 16 patients referred for hearing aids two patients declined them. In conclusion, greater awareness is needed among physicians regarding the prevalence, severity and prognostic implications of hearing impairment in patients with TS.