Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians. (25th March 2014)

• Record Type: Journal Article
• Authors: Lim, DBN; Gault, EJ; Kubba, H; Morrissey, MSC; Wynne, DM; Donaldson, MDC
• Is Part Of: Acta pædiatrica. Volume 103:Number 7(2014:Jul.)
• Page Start: e282
• Page End: e287
• Publication Date: 2014-03-25
• Subjects: Pediatrics -- Periodicals; Pediatrics; 618.92
• DOI: 10.1111/apa.12622
• Languages: English
• ISSNs: 0803-5253

Abstract

<abstract abstract-type="main" id="apa12622-abs-0001"> <title>Abstract</title> <sec id="apa12622-sec-0001" sec-type="section"> <title>Aim</title> <p>Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection.</p> </sec> <sec id="apa12622-sec-0002" sec-type="section"> <title>Methods</title> <p>We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma.</p> </sec> <sec id="apa12622-sec-0003" sec-type="section"> <title>Results</title> <p>Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age‐matched girls without cholesteatoma (comparison girls). All the index girls had either the 45, X or 45, X/46X, i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5–15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p < 0.0001) and tympanic membrane retraction (p = 0.0001) than comparison girls.</p> </sec> <sec id="apa12622-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Cholesteatoma has a high prevalence in Turner syndrome. Risk factors include 45, X and 46, XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial.</p> </sec> </abstract>