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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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“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
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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
Sybert, V. P., & McCauley, E. (2004) · New England Journal of Medicine · doi:10.1056/nejmra030360 · Cited by 918
A note on competing risks in survival data analysis
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Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
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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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Items 301–363 of 363
Ullrich-Turner-Syndrom: Kardiovaskuläre Gefährdung durch kongenitale Herzfehler
Oberhoffer, F. S., Dalla‐Pozza, R., & Haas, N. A. (2022) · Deutsches Ärzteblatt · doi:10.3238/perskardio.2022.06.17.04
The Burden of Disease for Children Diagnosed with Turner Syndrome – A European Cohort StudyPreprint
Andersen, A. R., Urhøj, S. K., Tan, J., Cavero‐Carbonell, C., Gatt, M., Gissler, M., Klungsøyr, K., Khoshnood, B., Morris, J. K., Neville, A. J., et al. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4173285
Sex chromosome mechanisms in cardiac development and diseasePreprint
Conlon, F. L., & Arnold, A. P. (2022) · Research Square · doi:10.21203/rs.3.rs-1933881/v1
Duranteau, L., & Fernandez, H. (2022) · Elsevier eBooks · doi:10.1016/b978-2-294-77351-8.00015-8
(Arrhythmogenic potential in Turner syndrome patients)
Kaprálová, S., Pavlíček, J., Palátová, A., Vrtěl, R., Tomášková, H., Zapletalová, J., & Klásková, E. (2023) · Cor et Vasa · doi:10.33678/cor.2023.036
Wang, Y., Zhuang, Z., Xun, Y., Zhao, Y., Shi, M., Mo, X., & Qi, J. (2023) · Research Square · doi:10.21203/rs.3.rs-3463536/v1
Aortic Dilatation and Aortopathies in Congenital Heart Disease
Ciancarella, P., Bordonaro, V., & Secinaro, A. (2024) · Springer eBooks · doi:10.1007/978-3-031-52527-8_22
Surveillance, Prevention, and Management of Neoplasms in Children with DSD
Bhardwaj, A., Goel, P., & Agarwala, S. (2024) · Springer eBooks · doi:10.1007/978-981-97-1639-5_63
Non-coding rnas in Turner syndrome: a systematic review
de Oliveira, J. C. C., Barbosa, E. D. S., Silva, N. B., Silva, T. D. C., Matos, A. G. D. M., & Pinho, J. D. (2024) · Revista Paulista de Pediatria · doi:10.1590/1984-0462/2025/43/2024029
Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
Chapter 22. Neurocognitive Disorders
Merideth, F. L., Vahia, I. V., & Jeste, D. V. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg22
Chapter 2. The Neurological Examination for Neuropsychiatric Assessment
Benjamin, S., & Lauterbach, M. D. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg02
Chapter 25. Somatic Symptom and Related Disorders
Dickerman, A. L., & Muskin, P. R. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg25
Chapter 1. An Internist’s Approach to the Neuropsychiatric Patient
Rencic, J. J., & Salem, D. N. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg01
Chapter 6. Cardiovascular Disease
Shapiro, P. A. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg06
Chapter 7. Endocrine Disorders and Their Psychiatric Manifestations
Gagliardi, J. P. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg07
Doghramji, K. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg24
McCarron, R. M., Sheth, S. J., Mesa, C. D., & Parish, M. B. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg23
Chapter 3. The Bedside Cognitive Examination in Medical Psychiatry
Glass, S. P. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg03
Chapter 17. Psychotic Disorders Due to Medical Illnesses
Brown, H. E., Mukerji, S., & Freudenreich, O. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg17
Chapter 10. Gastroenterological Disease in Patients With Psychiatric Disorders
Nadkarni, A., & Silbersweig, D. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg10
(2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.index
Chapter 16. Neurodevelopmental Disorders
Hauptman, A. J., & Benjamin, S. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg16
Chapter 18. Catatonia in the Medically Ill Patient
Beach, S. R., & Fricchione, G. L. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg18
Chapter 12. Neurological Conditions and Their Psychiatric Manifestations
Fogel, B. S., Baslet, G. C., Safar, L. T., Raynor, G., & Silbersweig, D. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg12
Chapter 13. Cancer: Psychiatric Care of the Oncology Patient
Fernandez-Robles, C. G., & Glass, S. P. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg13
Chapter 19. Mood Disorders Due to Medical Illnesses
Mauer, S., Querques, J., & D, P. S. M. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg19
(2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.fm01
Chapter 15. Women’s Mental Health and Reproductive Psychiatry
Almeida, M., Brown, K. M., Mittal, L. P., Nathan, M., & Joffe, H. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg15
Chapter 8. Inflammatory Diseases and Their Psychiatric Manifestations
Gonzalez, R. L., & Nemeroff, C. B. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg08
Chapter 14. Dermatology: Psychiatric Considerations in the Medical Setting
Taylor, K. A., Gordon-Elliott, J. S., & Muskin, P. R. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg14
Chapter 9. Infectious Diseases and Their Psychiatric Manifestations
Freudenreich, O., Donnelly-Boylen, K. M., & Gandhi, R. T. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg09
Chapter 21. Substance Use Disorders in the Medical Setting
Sharma, S., Haddad, S. E., & Suzuki, J. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg21
Chapter 5. Toxicological Exposures and Nutritional Deficiencies in the Psychiatric Patient
Zein, M., Khan, S., Legha, J. K., & Wasserman, L. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg05
Chapter 11. Renal Disease in Patients With Psychiatric Illness
Chan, L., & Bostwick, J. M. (2020) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615378869.lg11
Bartel, W. P., Accordino, R. E., Awidi, B., & Prager, L. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-76269-7_11
FERTILITY AND PARENTING OPTIONS IN TURNER SYNDROME - A REVIEW OF CURRENT POTENTIAL AND LIMITATIONS
Dzwonkowska, A., & Redel, P. (2025) · International Journal of Innovative Technologies in Social Science · doi:10.31435/ijitss.3(47).2025.3505
Park, H. K., Shim, Y. S., & Lee, H. S. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf150
Jiang, W., Ji, T., Wu, Q., Xu, Z., & Xia, X. (2025) · Clinical Case Reports · doi:10.1002/ccr3.70981
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
Hinds, D. R., Pimenta, J. M., Low, A., Mittal, D., Gala, S., & Gupta, D. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64279 · Cited by 1
Global burden and between‐country inequalities in Turner syndrome from 1990 to 2021
Long, X., Hu, Y., Wu, M., Yang, L., Jin, W., & Han, X. (2025) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.70082
Exercise capacity in girls with Turner syndrome
Debo, B., Coomans, I., Vandekerckhove, K., & Groote, K. D. (2025) · European Journal of Pediatrics · doi:10.1007/s00431-025-06664-x
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2024) · Figshare · doi:10.6084/m9.figshare.26657062
Additional file 1 of X chromosome dosage and the genetic impact across human tissues
Viuff, M. H., Skakkebaek, A. H., Johannsen, E. B., Chang, S., Pedersen, S. B., Lauritsen, K. M., Pedersen, M. G. B., Trolle, C., Just, J., & Gravholt, C. H. (2023) · Figshare · doi:10.6084/m9.figshare.22619594
Additional file 2 of X chromosome dosage and the genetic impact across human tissues
Viuff, M. H., Skakkebaek, A. H., Johannsen, E. B., Chang, S., Pedersen, S. B., Lauritsen, K. M., Pedersen, M. G. B., Trolle, C., Just, J., & Gravholt, C. H. (2023) · Figshare · doi:10.6084/m9.figshare.22619597
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2024) · Figshare · doi:10.6084/m9.figshare.26657056
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2024) · Figshare · doi:10.6084/m9.figshare.26657059
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2024) · Figshare · doi:10.6084/m9.figshare.26657053
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2023) · Figshare · doi:10.6084/m9.figshare.24883569
Luo, Y., Chen, Y., Ge, L., Zhou, G., Chen, Y., & Zhu, D. (2024) · Figshare · doi:10.6084/m9.figshare.24883836
Fertility preservation in patients with Turner syndrome: a SWOT analysis
Ferro, R., Vento, F. D., & Streuli, I. (2025) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2025.105438
Adipose tissue distribution and metabolic profile of young individuals with turner syndrome
Thomas, V. M., Backeljauw, P. F., Shah, A. S., Bowers, K. A., & Gutmark‐Little, I. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag016
Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio
Cheng, Y., Cheng, H.-H., Lee, C., Huang, K.-L., Lin, Y., Hsu, T.-Y., & Lan, K. (2026) · Climacteric · doi:10.1080/13697137.2026.2631499
Huang, Y., Luo, S., Qi, Y., Qin, S., Yue, C., Lu, Q., Lash, G. E., & Li, L. (2026) · Research Square · doi:10.21203/rs.3.rs-9246643/v1
Growth hormone therapy in Turner syndrome: Do cytogenetic subtypes influence outcomes?
Herșcovici, I.-I., Pânzaru, M.-C., Constantinescu, G., Leuștean, L., Ungureanu, M.-C., Preda, C., & Rusu, C. (2026) · Endocrinología Diabetes y Nutrición (English ed ) · doi:10.1016/j.endinu.2026.501821
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Gravholt, C. H., Balle, C. M., Johannsen, E. B., Valsted, L. B., Hartogsohn, E. A. R., Bedei, I. A., Just, J., Backeljauw, P. F., & Stochholm, K. (2026) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(26)00192-0
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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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