The DOI matches its Crossref record; 31 of the 32 references it cites were found in a registry or an index.
Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study
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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In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“Similarly, a British study showed a 3-fold increased risk of liver disease-associated death in patients with TS.27”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [27]
Citations
Cites
Statistical Methods in Cancer Research. Volume II – The Design and Analysis of Cohort Studies
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Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005
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A note on competing risks in survival data analysis
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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
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(97)00237-0 · Cited by 548
Turner's Syndrome in Adulthood
Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. H. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.1.0457 · Cited by 395
Aortic Dilatation and Dissection in Turner Syndrome
Matura, L. A., Ho, V. B., Rosing, D. R., & Bondy, C. A. (2007) · Circulation · doi:10.1161/circulationaha.106.685487 · Cited by 366
Cardiovascular Malformations and Complications in Turner Syndrome
Sybert, V. P. (1998) · PEDIATRICS · doi:10.1542/peds.101.1.e11 · Cited by 326
Clinical and epidemiological description of aortic dissection in Turner's syndrome
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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Broekmans, F. J., Soules, M. R., & Fauser, B. C. (2009) · Endocrine Reviews · doi:10.1210/er.2009-0006 · Cited by 1,248
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101
2024 ESC Guidelines for the management of peripheral arterial and aortic diseases
Mazzolai, L., Teixidó‐Turà, G., Lanzi, S., Boc, V., Bossone, E., Brodmann, M., Bura-Rivière, A., Backer, J. F. A. D., Déglise, S., Corte, A. D., et al. (2024) · European Heart Journal · doi:10.1093/eurheartj/ehae179 · Cited by 1,313
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
Gravholt, C. H., Chang, S., Wallentin, M., Fedder, J., Moore, P. J., & Skakkebaek, A. H. (2018) · Endocrine Reviews · doi:10.1210/er.2017-00212 · Cited by 354
Metadata
- 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)
- 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
- 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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