Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome
Abstract
Hearing loss is one of the major medical concerns in girls and women with Turner syndrome (TS) and has a negative effect on well-being and quality of everyday life. Sensorineural hearing loss is the most common type of hearing loss, affecting more than half of adults with TS. Karyotypes with a loss of the short p-arm on the X-chromosome are more prone to ear and hearing problems. The importance of detecting, investigating, and treating hearing loss with hearing aids cannot be emphasized enough. The pathophysiology of the sensorineural hearing loss in TS is not known, but theories regarding estrogen deficiency, the cell cycle delay hypothesis, IGF-1 deficiency and the possible role of the KDM6A gene are discussed. Due to the diversity of symptoms and conditions within the same karyotype, a combination of genetic factors altered by epigenetic and/or hormonal effects is probable. Further research is needed regarding the pathophysiology of ear and hearing problems in TS to develop new treatment methods.
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TS is associated with both conductive and sensorineural hearing loss.
“TS is associated with both conductive and sensorineural hearing loss.650,651”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [651]
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Behavioral Assessment of Central Auditory Processing in Turner Syndrome
dos Santos, A. F. D., Bazilio, M. M. D. M., Frota, S., Guimarães, M. M., & Ribeiro, M. G. (2023) · International Archives of Otorhinolaryngology · doi:10.1055/s-0043-1768141
17β‐estradiol Attenuates the Middle Ear Inflammatory Response to Nontypeable Haemophilus influenzae
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Progress of Research on Interventions for Age-Related Hearing Loss
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Clinical and genetic insights into hearing loss in Turner syndrome: a study from an Egyptian cohort
Hassaan, H. M., ElGindy, H. A., El-Hamamsy, K., Eldeeb, E. M. H., Hamdy, H. S., Abdulghffar, A. N. F., & Mohamed, R. (2025) · Egyptian Pediatric Association Gazette · doi:10.1186/s43054-025-00496-y
Atteintes sensorielles, auto-immunes et endocrino-métaboliques liées au syndrome de Turner
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- Authors
- Bonnard, Å., Bark, R., & Hederstierna, C.
- Affiliations
- Karolinska University Hospital (SE)
- Corresponding author
- Bonnard, Åsa
- Venue
- American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2019-01-10
- Volume
- 181
- Issue
- 1
- Pages
- 67-73
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2911070197
- Cited by
- 38
- References
- 65
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 8 · 2023: 5 · 2022: 5 · 2021: 12 · 2020: 2 · 2019: 2
- FWCI
- 0.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (UL1TR000371)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, sensorineural hearing loss, X chromosome, Xp deletion, hearing aids, estrogen deficiency, IGF-1 deficiency, epigenetics
- MeSH terms
- Female, Hearing Loss, Sensorineural, Humans, Turner Syndrome, Chromosomes, Human, X, Karyotype
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