Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study
Open accessAbstract
The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with Turner syndrome have been described, and case reports of Turner syndrome girls suffering from epilepsy have been published, but no large population-based-studies have explored the occurrence of any of these disorders. We aimed to investigate the risk of admission with disorders related to the eye, ear, nose, skin, and nervous system, compared with background females, and the impact of hormone replacement therapy on these conditions. 1,156 females with TS diagnosed during 1960-2014 were identified using the Danish Cytogenetic Central Registry and linked with personal-level data from the National Patient Registry and the Medication Statistics Registry. Statistics Denmark randomly identified 115,577 age-matched background females. Negative binomial regression was used to analyze hospital discharge diagnoses, reporting incidence rate ratios (IRR). Women with Turner syndrome have an increased risk of developing eye disorders (IRR 4.3 (95% CI 3.5-5.4), including cataract, glaucoma, ocular movement, and accommodation. The risk of ear disorders (IRR 35.0 (27.9-43.9)) and nose (IRR 2.2 (1.4-3.6)) was increased in women with Turner syndrome, due to otitis media, cholesteatoma, and hearing loss. Disorders of the nervous system such as epilepsy were increased IRR 6.2 (2.4-15.9), along with skin conditions IRR 2.2 (95%CI 1.7-2.7) like psoriasis, atopic dermatitis, and ingrown nails.
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Congenital and acquired glaucoma and cataracts are more prevalent in TS than the general population, with risk ratio estimates ranging from 3 to 6.
“Congenital and acquired glaucoma and cataracts are also more prevalent in TS than the general population, with risk ratio estimates ranging from 3 to 6.647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Craniofacial abnormalities, history of middle ear disease, aortic anomalies, metabolic syndrome, and age have all been associated with hearing loss severity and progression in TS.
“Craniofacial abnormalities, history of middle ear disease, aortic anomalies, metabolic syndrome, and age have all been associated with hearing loss severity and progression in TS.647,650,653”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Strabismus occurs in up to 25% of individuals with TS.
“Strabismus occurs in up to 25% of individuals with TS, and refractive errors such as hyperopia, myopia, and astigmatism affect ∼40%.644-647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Refractive errors such as hyperopia, myopia, and astigmatism affect ∼40% of individuals with TS.
“Strabismus occurs in up to 25% of individuals with TS, and refractive errors such as hyperopia, myopia, and astigmatism affect ∼40%.644-647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Karyotypes 45,X, 45,X/46,iso(X), and ring X appear to be at the highest risk for ear and hearing diagnoses, however the incidence rate for ear and hearing diagnoses is 35-fold higher in all TS karyotypes combined compared to the general population.
“Karyotypes 45,X, 45,X/46,iso(X), and ring X appear to be at the highest risk, however the incidence rate for ear and hearing diagnoses is 35-fold higher in all TS karyotypes combined compared to the general population.630,647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Neither estrogen nor GH therapy has been associated with ear disease or hearing loss in TS.
“Neither estrogen nor GH therapy has been associated with ear disease or hearing loss in TS.647,652,660”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Observational studies suggest higher rates of sleep disorders in TS even in very young children.
“Observational studies suggest higher rates of sleep disorders in TS even in very young children.414,647,670”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Complications of nail anomalies in TS can include ingrown toenails and skin infections (IRR 23.7).
“Complications can include ingrown toenails and skin infections (IRR 23.7).647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
Common dermatologic conditions in TS include seborrheic dermatitis, atopic dermatitis, allergic contact dermatitis, and psoriasis.
“Common dermatologic conditions in TS include seborrheic dermatitis, atopic dermatitis, allergic contact dermatitis, and psoriasis.647”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [647]
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Roszkowska, A. M., Mancini, M., Gargiulo, L., Pepe, G., Gargano, R., Aversa, T., & Wasniewska, M. (2026) · International Ophthalmology · doi:10.1007/s10792-026-04018-6
Cutaneous manifestations in Turner syndrome: a systematic review and meta-analysis
Mendes, B. X., de Oliveira, L. M. L., Cavalcante, D. V. S., Rosa, L. M., Kreuz, M., Amorim, S. S., & Lopes, F. C. P. S. (2026) · Archives of Dermatological Research · doi:10.1007/s00403-026-04543-5
Feng, X., 戴素萍, Lu, H., Zhu, J., Fang, Y., & Wang, C. (2026) · Molecular Cytogenetics · doi:10.1186/s13039-026-00783-2
New genomic understanding and challenges in clinical care of Turner syndrome
Gravholt, C. H., Balle, C. M., Johannsen, E. B., Valsted, L. B., Hartogsohn, E. A. R., Bedei, I. A., Just, J., Backeljauw, P. F., & Stochholm, K. (2026) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(26)00192-0
- Authors
- Viuff, M. H., Stochholm, K., Juul, S., & Gravholt, C. H.
- Affiliations
- Aarhus University Hospital (DK)
- Aarhus University (DK)
- Corresponding author
- Viuff, Mette Hansen
- Venue
- European Journal of Human Genetics
- Published
- 2021-10-28
- Volume
- 30
- Issue
- 2
- Pages
- 229-236
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC8821537
- OpenAlex
- W3210659405
- Cited by
- 27
- References
- 51
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 7 · 2023: 5 · 2022: 4
- FWCI
- 2.26
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Aarhus Universitets Forskningsfond
- Familien Hede Nielsens Fond
- Novo Nordisk Fonden (NNF13OC0003234, NNF15OC0016474)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Turner syndrome, eye diseases, ear diseases, skin diseases, neurological disorders, epilepsy, hearing loss, otitis media, cataract, glaucoma, psoriasis, atopic dermatitis, hormone replacement therapy, hospitalization risk, women
- MeSH terms
- Female, Humans, Nervous System, Registries, Turner Syndrome, Cohort Studies, Incidence
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