Cited by 363Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

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Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

Schoemaker, Minouk J., Swerdlow, Anthony J., Higgins, Craig D., Wright, Alan F., Jacobs, Patricia A.·2008·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2008-1049

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Abstract

CONTEXT: Turner syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described. OBJECTIVES: Our objective was to investigate mortality and causes of death in women with Turner syndrome. DESIGN AND SETTING: We constructed a cohort of women diagnosed with Turner syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality. PATIENTS: A total of 3,439 women diagnosed between 1959-2002 were followed to the end of 2006. OUTCOME MEASURES: Standardized mortality ratios (SMRs) and absolute excess risks were evaluated. RESULTS: In total, 296 deaths occurred. Mortality was significantly raised overall [SMR = 3.0; 95% confidence interval (CI) = 2.7-3.4] and was raised for nearly all major causes of death. Circulatory disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 95% CI = 13.8-37.8) and aortic valve disease (SMR = 17.9; 95% CI = 4.9-46.0), but SMRs were also raised for other circulatory conditions. Other major contributors to raised mortality included congenital cardiac anomalies, diabetes, epilepsy, liver disease, noninfectious enteritis and colitis, renal and ureteric disease, and pneumonia. Absolute excess risks of death were considerably greater at older than younger ages. CONCLUSIONS: Mortality in women with Turner syndrome is 3-fold higher than in the general population, is raised for almost all major causes of death, and is raised at all ages, with the greatest excess mortality in older adulthood. These risks need consideration in follow-up and counseling of patients and add to reasons for continued follow-up and preventive measures in adult, not just pediatric, care.

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Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0558 · Cited by 652
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Aortic Dilatation and Dissection in Turner Syndrome
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Gravholt, C. H., Landin‐Wilhelmsen, K., Stochholm, K., Hjerrild, B., Ledet, T., Djurhuus, C., Sylvén, L., Baandrup, U. T., Kristensen, B. Ø., & Christiansen, J. S. (2006) · Cardiology in the Young · doi:10.1017/s1047951106000928 · Cited by 264

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Background
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Turner Syndrome
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Authors: Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A.
Affiliations: Institute of Cancer Research (GB)
MRC Human Genetics Unit (GB)
Salisbury District Hospital (GB)
ORCID: Schoemaker, Minouk J.
Swerdlow, Anthony J.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2008-12
Volume: 93
Issue: 12
Pages: 4735-4742
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2008-1049
OpenAlex: W2057862933
Cited by: 360
References: 32
Citations by year: 2026: 14 · 2025: 29 · 2024: 25 · 2023: 24 · 2022: 30 · 2021: 18 · 2020: 52 · 2019: 28 · 2018: 14 · 2017: 18 · 2016: 12 · 2015: 16 · 2014: 15 · 2013: 15 · 2012: 17
FWCI: 6.27
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Keywords: Turner syndrome, mortality, causes of death, standardized mortality ratio, aortic aneurysm, aortic valve disease, circulatory diseases, congenital heart disease, diabetes mellitus, epilepsy, liver disease, kidney disease, pneumonia, adult follow-up, X chromosome monosomy
MeSH terms: Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Aortic Aneurysm, Aortic Valve Insufficiency, Cardiovascular Diseases, Cause of Death, Female, United Kingdom, Humans, Karyotyping, Middle Aged, Neoplasms, Retrospective Studies, Risk, Turner Syndrome, Women, Cohort Studies, Confidence Intervals, Cytogenetic Analysis, Young Adult

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Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

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