The DOI matches its Crossref record; 97 of the 98 references it cites were found in a registry or an index.
Morbidity in Turner Syndrome
Abstract
Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome. The study period was from January 1, 1984 to December 31, 1993, and the study base was all women living in Denmark during the study period. We used data from the Danish Cytogenetic Central Register and the Danish National Registry of Patients to assess morbidity. This study supports several earlier studies reporting increased morbidity and confirms results of a recent study on cancer in Turner syndrome. Women with Turner syndrome seem to have an increased incidence of fractures, osteoporotic fractures in adulthood, and non-osteoporotic fractures in childhood. Furthermore, diabetes mellitus, both NIDDM and IDDM, was found with a markedly increased incidence in Turner syndrome, as well as ischemic heart disease, hypertension, and stroke. The risk of cancer, except cancer of the large bowel, does not seem to be elevated in Turner syndrome. Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia). The present data may help to explain the decreased life span found in patients with Turner syndrome.
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“In the presence of LFA, the risk of cirrhosis among TS is six times higher than in the general population.344,716”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [716]
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Items 501–546 of 546
Estrogen Replacement in Turner Syndrome
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Ankylosing spondylitis complicating Turner syndrome
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Cognitive and Behavioral Manifestations in Turner Syndrome
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Acromegaly coexisting with turner syndrome
Kı̇şı̇oğlu, S. V., Günay, Y., Yarar, M. H., & Koçak, M. (2021) · Endocrine and Metabolic Science · doi:10.1016/j.endmts.2021.100086
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“Although a relatively small cohort, these findings point towards an increased risk of diabetes in TS, as shown previously, 17 and it may be speculated that the non-diabetic anti-GAD-65-positive patient might eventually develop diabetes.”
InfluentialDavenport, M. L., ROSS, J. L., & Backeljauw, P. F. (2013) · Humana Press eBooks · doi:10.1007/978-1-60761-395-4_7
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The Burden of Disease for Children Diagnosed with Turner Syndrome – A European Cohort StudyPreprint
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A Case of Turner Syndrome Presenting as Aneurysmal Subarachnoid Hemorrhage
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“Both renovascular hypertension and cerebrovascular abnormalities may play a role in cerebrovascular incidents 5,8,9) .”
BackgroundInfluentialFactors of reduced bone mineral density in children with Turner syndrome
Peskavaya, N., & Solntsava, A. V. (2023) · Medical and Biological Problems of Life Activity · doi:10.58708/2074-2088.2023-2(30)-111-116
Chen, M., Li, L., & Huang, M. (2024) · Research Square · doi:10.21203/rs.3.rs-4019757/v1
Molecular mechanisms of early development of 45,X0 embryos (Turner syndrome)
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Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
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Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome
Siasiakou, S. M., Stoupi, E., Roumpou, A., Papanikolopoulou, A., Syrigos, N. K., TINIAKOS, D. G., & Peppa, Μ. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14113979
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“Promoting exercise is crucial in preventing overweight and hypertension, both additional risk factors for aortic dissection.”
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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
Cutaneous manifestations in Turner syndrome: a systematic review and meta-analysis
Mendes, B. X., de Oliveira, L. M. L., Cavalcante, D. V. S., Rosa, L. M., Kreuz, M., Amorim, S. S., & Lopes, F. C. P. S. (2026) · Archives of Dermatological Research · doi:10.1007/s00403-026-04543-5
Premature Ovarian Insufficiency
Jovanovic, M., Laufer, A. B., & Gordon, C. M. (2026) · Springer eBooks · doi:10.1007/978-3-032-19887-7_9
Bashir, I. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-27660-6.00010-9
Cytogenetic and Clinical Profile of Turner Syndrome: A Tertiary Care Center Study from Central India
Sinha, M. B., & Verma, R. (2026) · Journal of Anatomical Society of India · doi:10.4103/jasi.jasi_39_26
New genomic understanding and challenges in clinical care of Turner syndrome
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
Cafmeyer, M., Bruaene, A. V. D., Troost, E., Vandenberk, B., Meester, P. D., Moons, P., Decallonne, B., & Budts, W. (2026) · International Journal of Cardiology · doi:10.1016/j.ijcard.2026.134964
Williams, S., Fu, A. Z., Williams, I., Giger, O., Safranek, P., Napolitano, A., Jones, R. L., & Bulusu, R. (2026) · ESMO Gastrointestinal Oncology · doi:10.1016/j.esmogo.2026.100431
“A nationwide Swedish cohort study by Ji et al. 6 found a 1.34-fold increase in overall cancer risk in TS compared with the general population, whereas a Danish cohort study by Gravholt et al. 7 reported an increased risk of colorectal cancer specifically.”
InfluentialGonadal Hormones, Diseases, and Emerging Therapeutics
Mirza, F., Zakko, L., & Taxel, P. (2012) · Springer eBooks · doi:10.1007/978-1-4471-2745-1_3
“This study was, however, performed prior to the widespread use of hormone replacement therapy (HRT) to improve bone health in patients with Turner syndrome [ 6, 33 ] .”
BackgroundResultGus’kov, E. P., Shkurat, T. P., Polienko, A. Y., Amelina, S. S., Timolyanova, E. K., Lomteva, S. V., Vladimirsky, B. V., & Vladimirsky, B. B. (2001) · Russian Journal of Genetics · doi:10.1023/a:1016681426123
Metadata
- Authors
- Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J.
- Affiliations
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Corresponding author
- Gravholt, Claus Højbjerg
- Venue
- Journal of Clinical Epidemiology
- Publisher
- Elsevier BV
- Published
- 1998-02
- Volume
- 51
- Issue
- 2
- Pages
- 147-158
- ISSN
- 0895-4356 (ISSN-L)
- OpenAlex
- W2037733089
- Cited by
- 548
- References
- 98
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 18 · 2023: 23 · 2022: 15 · 2021: 19 · 2020: 20 · 2019: 27 · 2018: 26 · 2017: 24 · 2016: 18 · 2015: 26 · 2014: 16 · 2013: 22 · 2012: 22
- FWCI
- 7.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Clinical Epidemiology (publishedVersion)
- PubMed (publishedVersion)
- 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
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Turner syndrome, morbidity, disease incidence, osteoporotic fractures, diabetes mellitus, type 2 diabetes, type 1 diabetes, ischemic heart disease, hypertension, stroke, cancer risk, metabolic syndrome, dyslipidemia, hyperinsulinemia, hyperuricemia, adult women
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Denmark, Female, Humans, Infant, Karyotyping, Middle Aged, Morbidity, Registries, Risk Factors, Turner Syndrome, Comorbidity, Incidence, Age Distribution
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