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Cited by 364Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

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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Crossref · 10.1210/jc.2008-1049

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  • Individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.

    “Overall, individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.25-29”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]

  • Individuals with TS frequently cope with a lifelong burden of congenital and acquired cardiovascular diseases, which are primarily responsible for the increased mortality of adults with TS.

    “Individuals with TS frequently cope with a lifelong burden of congenital and acquired cardiovascular diseases, which are primarily responsible for the increased mortality of adults with TS.27,28”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]

  • Ischemic heart disease is a major cause of morbidity and mortality in TS.

    “Ischemic heart disease is a major cause of morbidity and mortality in TS.27,29”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]

  • Studies that rely on death certificates to determine causes of death found that the standardized mortality ratio for ischemic heart disease is elevated in TS, with most deaths due to coronary artery disease occurring after age 45.

    “Studies that rely on death certificates to determine causes of death found that the standardized mortality ratio for ischemic heart disease is elevated in TS, with most deaths due to coronary artery disease occurring after age 45.27”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]

  • Despite a wide range of abnormal renal morphology, long-term kidney function remains normal in most youth and young adults with TS, although there are few longitudinal studies.

    “In contrast, despite a wide range of abnormal renal morphology, long-term kidney function remains normal in most youth and young adults with TS,17,27,690 although there are few longitudinal studies.”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]

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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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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