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

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Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome : a nationwide cohort study. / Viuff, Mette Hansen; Stochholm, Kirstine; Juul, Svend et al.

In: European Journal of Human Genetics, Vol. 30, No. 2, 02.2022, p. 229-236.

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@article{bd3e8e513ed045d388b067350c3bad9c,
title = "Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome: a nationwide cohort study",
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.",
keywords = "AUTOIMMUNE, DISEASE, GIRLS, HEARING-LOSS, KARYOTYPE, PATIENT, PUSTULAR PSORIASIS",
author = "Viuff, {Mette Hansen} and Kirstine Stochholm and Svend Juul and Gravholt, {Claus H{\o}jbjerg}",
year = "2022",
month = feb,
doi = "10.1038/s41431-021-00989-5",
language = "English",
volume = "30",
pages = "229--236",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "2",

}

RIS

TY - JOUR

T1 - Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome

T2 - a nationwide cohort study

AU - Viuff, Mette Hansen

AU - Stochholm, Kirstine

AU - Juul, Svend

AU - Gravholt, Claus Højbjerg

PY - 2022/2

Y1 - 2022/2

N2 - 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.

AB - 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.

KW - AUTOIMMUNE

KW - DISEASE

KW - GIRLS

KW - HEARING-LOSS

KW - KARYOTYPE

KW - PATIENT

KW - PUSTULAR PSORIASIS

UR - http://www.scopus.com/inward/record.url?scp=85117924950&partnerID=8YFLogxK

U2 - 10.1038/s41431-021-00989-5

DO - 10.1038/s41431-021-00989-5

M3 - Journal article

C2 - 34707298

VL - 30

SP - 229

EP - 236

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 2

ER -