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Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study

European Journal of Human Genetics volume 30, pages 229–236 (2022)Cite this article

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Abstract

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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Fig. 1: The risk of admission with eye, ear, nose, skin or nervous system related diagnosis in Turner syndrome females and background females.
Fig. 2: The effect of HRT on eye, ear, nose, skin, or nervous system disorders in the total cohort.

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Data availability

Restrictions apply to the availability of data analyzed during this study to preserve patient confidentiality. All analyzed of data in this study was performed through a remote access to Statistic Denmark (https://www.dst.dk/en/). Researchers can apply Statistics Denmark in order to access the registry data. The corresponding author will on request detail the restrictions and any conditions under which access to some data may be provided.

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Acknowledgements

Jan Hansen from the Danish Cytogenetic Central Register is thanked for the identification of women with Turner syndrome. Statistics Denmark supplied the data and identified controls.

Funding

This work was supported by Aarhus University (PhD grant) to Mette Viuff; the Novo Nordisk Foundation (NNF13OC0003234, NNF15OC0016474), the Independent Research Fund Denmark (0134-00406 A); and the Familien Hede Nielsen foundation.

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Authors and Affiliations

  1. Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

    Mette Hansen Viuff & Claus Højbjerg Gravholt

  2. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

    Mette Hansen Viuff, Kirstine Stochholm & Claus Højbjerg Gravholt

  3. Section for Epidemiology, Department of Public Health, Aarhus University, Aarhus, Denmark

    Svend Juul

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  1. Mette Hansen Viuff
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Contributions

MV and CG developed the theory and hypotheses. MV retrieved data from the registries and analyzed data. SJ and MV developed the final methods. All authors discussed the results and contributed to the final manuscript. MV wrote the manuscript with support from CG, SJ and KS. All authors approved the final version of the article, including the authorship list.

Corresponding author

Correspondence to Mette Hansen Viuff.

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Competing interests

The authors declare no competing interests.

Ethical approval

The board of the Danish Cytogenetic Central Registry and the Danish Data Protection Authority approved the project with the registration number 2013-41-2017. Data were accessed using a secure remote access to Statistics Denmark. In order to avoid any possibility of personal identification of cases, Statistics Denmark prohibits specification of the exact number of cases with a given condition if less than four, and we therefore report these as “<4”.

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Viuff, M.H., Stochholm, K., Juul, S. et al. Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study. Eur J Hum Genet 30, 229–236 (2022). https://doi.org/10.1038/s41431-021-00989-5

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