Endocrine Abstracts

Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS).

Aims: To estimate its incidence in our TS population; identify risk factors; highlight distinctive operative findings; and suggest strategies for earlier detection.

Methods: Retrospective casenote review for patients attending a TS clinic to identify those with cholesteatoma; each age-matched with three unaffected TS girls for comparison.

Results: 179 patients attended the clinic 1989–2012. Middle ear disease, including acute otitis media (OM) and OM with effusion, was found in 7/7 index vs 15/21 comparison girls, with median age at myringotomy and grommet insertion 3.9 vs1.5 and 5 vs 4 years. Cholesteatoma occurred in 7 (3.9%) girls (45,X [4] or 45,X/46,X,i(Xq)[3]), with 9 affected ears and recurrence in one girl. Median (range) age at first cholesteatoma presentation was 12.5 (7.5–15.2) years. Discharging ear (often purulent and/or foul-smelling) for median (range) 1.3 (1–4) months was the presenting feature in 8/10 ears, with aural polyps in 3/9 ears. Index vs. comparison girls had a higher incidence of myringotomy (5/9 vs 3/42 ears), grommet insertion (6/9 vs 5/42 ears), chronic suppurative OM (5/7 vs 1/21 girls) and tympanic membrane retraction (6/9 vs 2/42 ears). At surgery, 3/9 cholesteatoma ears showed dehiscent facial nerves, one had residual disease not dissectable at initial surgery and another required revision mastoidectomy.

Conclusion: Cholesteatoma has a very high prevalence in TS, affected girls being typically older with a history of chronic ear disease, tympanic membrane retraction and persistent ear discharge. Urgent referral for specialist ENT assessment is recommended for TS girls with otorrhoea >2 weeks.