Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians

Lim, David; Gault, Emma Jane; Kubba, Haytham; Morrissey,; Wynne, David; Donaldson, M D C

doi:10.1111/apa.12622

Cited by 17 publications

(19 citation statements)

References 13 publications

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“…By the end of the study, cholesteatoma had developed in eight (4.9%) patients, a further case developing since the original report of seven patients and was bilateral in two. Age at first presentation was >10 years in all but one—a girl aged 7.5 years.…”

Section: Resultsmentioning

confidence: 86%

“…Girls with the 45 X and 45,X/46,X,iXq karyotypes are at particularly high risk and require extra counselling and surveillance. In school‐aged children and adolescents, the family should be aware that persistent ear discharge, especially if offensive, merits urgent specialist review to exclude cholesteatoma . In addition to families of girls with TS, professional colleagues require appropriate education and training.…”

Section: Discussionmentioning

confidence: 99%

“…Middle ear disease in TS is particularly troublesome in early childhood, taking the form of acute otitis media and otitis media with effusion. A minority of girls develop chronic suppurative middle ear disease, with a much higher prevalence of cholesteatoma than in the general population . Conductive and sensorineural hearing loss are common and may have significant psychosocial and educational consequences.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome

et al. 2019

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Aim To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies. Methods Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow‐up in 2015. Results 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 0‐5 years in 23 (40%) girls, persisting in 16 (10%) at 5‐10 years; and first developing at 5‐10 years in 11 (7%). Persistent otitis media with effusion (OME) first developed at 0‐5 and 5‐10 years in 23 (40%) and 14 (8%) girls. Recurrent AOM was significantly linked with cholesteatoma in 8 (4.9%) girls (7 aged >10 years). Permanent hearing loss was documented in 28 girls (16.7%), with 16 (9.5%) receiving hearing aids (bone‐anchored in 3). Conclusion 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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Section: Resultsmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome

et al. 2019

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“…Middle ear disease has been noted with a similarly wide range (9–88%) reflecting age differences (Dhooge, De Vel, Verhoye, Lemmerling, & Vinck, ; King et al, ). A notable complication in Turner syndrome is the high prevalence of cholesteatoma (~4%), and is thought to be more common in patients with 45,X or 46,X isochromosome Xq and middle ear disease (Lim et al, ; Verver et al, ).…”

Section: Otorhinolaryngologic Aspectsmentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome

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“…Twenty-two case reports and epidemiological studies describe the occurrence of cholesteatoma in patients affected by congenital and malformation syndromes, 13,26,30,[35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52] several of which have a known underlying genetic aetiology. These are summarised in Table 2.…”

Section: Congenital Syndromes and Cholesteatomamentioning

confidence: 99%

The genetics of cholesteatoma. A systematic review using narrative synthesis

Jennings

Prinsley

Philpott

et al. 2017

Clinical Otolaryngology

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Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale, up to a million people are affected by this each year. We have conducted a systematic literature review to identify reports about the heritability of cholesteatoma or any constitutional genetic factors that may be associated with its aetiology.Data Sources: A systematic search of MEDLINE (EBSCO) and two databases of curated genetic research (OMIM and Phenopedia) was conducted.Study Selection: The participants and populations of interest for this review were people treated for cholesteatoma and their family members. The studies of interest reported evidence of heritability for the trait, or any association with congenital syndromes and particular genetic variants.Data Extraction: The searches identified 449 unique studies, of which 35 were included in the final narrative synthesis.Data Synthesis: A narrative synthesis was conducted, and data were tabulated to record characteristics, including study design, genetic data and author conclusions.Most of the studies identified in the literature search, and described here, are case reports and so represent the lowest level of evidence. In a few case reports, congenital and acquired cholesteatomas have been shown to segregate within families in the pattern typical of a monogenic or oligogenic disorder with incomplete penetrance. Evidence from syndromic cases could suggest that genes controlling ear morphology may be risk factors for cholesteatoma formation.Conclusions: This is the first systematic review about the genetics of cholesteatoma, and we have identified a small body of relevant literature that provides evidence of a heritable component for its aetiology. Cholesteatoma is a complex and heterogeneous clinical phenotype, and it is often associated with chronic otitis media and with some rare congenital syndromes known to affect ear morphology and related pathologies.

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Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians

Cited by 17 publications

References 13 publications

Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome

Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

The genetics of cholesteatoma. A systematic review using narrative synthesis

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