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Prevalence of Otological Disease in Turner Syndrome: A Systematic Review
Open accessAbstract
INTRODUCTION: Girls and women with Turner syndrome (TS) present with multiple ear and hearing problems, ranging from external morphologic abnormalities to sensorineural or conductive hearing loss. The exact pathophysiology behind these otological diseases is not yet completely understood. The aim of this study is to provide a systematic review on the prevalence of otological disease in TS. METHODS: We conducted a systematic review according to the PRISMA guidelines. A database search was performed in PubMed, Embase, Web of Science, and Cochrane library. RESULTS: The prevalence of otological disease as external ear deformities (20-62%), recurrent otitis media (24-48%), and hearing loss (36-84%) is high in TS. The auditory phenotype in TS is complex and seems to be dynamic with CHL due to middle ear disease at young age and sensorineural hearing loss later in life. CONCLUSION: This systematic review of the literature confirms that otological disease is definitely part of the widely variable phenotype in Turner patients. Strong evidence is lacking on the exact prevalence numbers, emphasizing the need for more prospective data gathering. Growing insights in its pathophysiology will help in the understanding and management of hearing problems in TS across lifespan.
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From early childhood through adolescence, persistent middle ear fluid and recurrent acute otitis media are common (24%-48%) in TS.
“From early childhood through adolescence, persistent middle ear fluid and recurrent acute otitis media are common (24%-48%) in TS.648”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [648]
The external ear malformations observed in 20%-62% of individuals with TS, including low-set ears, cupped auricles or narrowing of the external ear canal can largely be explained by SHOX haploinsufficiency.
“The external ear malformations observed in 20%-62% of individuals with TS, including low-set ears, cupped auricles or narrowing of the external ear canal can largely be explained by SHOX haploinsufficiency.648”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [648]
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References 33 · Cited by 9
Metadata
- Authors
- Geerardyn, A., Willaert, A., Decallonne, B., Desloovere, C., & Verhaert, N.
- Affiliations
- Universitair Ziekenhuis Leuven (BE)
- Department of Otorhinolaryngology, Head and Neck Surgery
- KU Leuven (BE)
- Corresponding author
- Geerardyn, Alexander
- Willaert, Annelore
- Desloovere, Christian
- Verhaert, Nicolas
- ORCID
- Venue
- Otology & Neurotology
- Published
- 2021-02-23
- Volume
- 42
- Issue
- 7
- Pages
- 953-958
- ISSN
- 1531-7129 (ISSN-L)
- 1537-4505
- OpenAlex
- W3130280454
- Cited by
- 9
- References
- 33
- Citations by year
- 2026: 2 · 2024: 2 · 2023: 2 · 2022: 3
- FWCI
- 0.32
- Type
- journal article
- Language
- en
- Open access
- green
- lirias.kuleuven.be
- Licence
- other-oa
- Locations
- Otology & Neurotology (publishedVersion)
- PubMed (publishedVersion)
- Lirias (submittedVersion, other-oa)
- Topics
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Otorhinolaryngology › Ear Surgery and Otitis Media
- Keywords
- Turner syndrome, prevalence, external ear deformity, recurrent otitis media, hearing loss, conductive hearing loss, sensorineural hearing loss, middle ear disease
- MeSH terms
- Female, Hearing Loss, Conductive, Hearing Loss, Sensorineural, Humans, Prospective Studies, Turner Syndrome, Prevalence, Hearing Loss
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