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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Skeletal Characteristics of Children and Adolescents with Turner Syndrome
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“Despite early follicular depletion, approximately 30% of girls with TS undergo spontaneous pubertal development, and 2 – 3% achieve regular menstrual cycles before premature menopause (4, 5).”
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“[18] However, several clinical studies in adult population have shown gradually progressive, adult‑onset glucose intolerance in TS. [18‑20] Studies have reported abnormal glucose metabolism in up to 70% of girls with TS.”
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“There is debate as to whether specific dyslipidaemia is associated with TS (Krzyścin et al. 2024; Sandahl et al. 2023; Viuff et al. 2019); however, there is consensus that patients show tendencies toward a ‘metabolic syndrome’ (Gravholt et al. 1998).”
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“Epidemiological studies in Denmark have questioned the postulated high incidence of gonadoblastoma in Turner syndrome patients [31,32].”
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Gravholt, C. H., Viuff, M. H., Stochholm, K., & Andersen, N. H. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64353-2 · Cited by 2
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Ketoacidosis as a debut to type 1B diabetes mellitus in a patient with Turner's syndrome
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“Up to 80% of patients with Turner’s syndrome have liver enzyme abnormalities due to hormone therapy or obesity, but the elevation of AST, ALT, r-GTP, and ALP generally do not reflect overt hepatic disorders and may be reversible.(6-10) Although overt hepatic disorders in Turner’s syndrome are very rare, Turner’s syndr…”
BackgroundGuimarães, M. M., Collett‐Solberg, P. F., Gallicchio, C. T., Coelho, C. D. S., Siqueira, R. D. A., & Alves, T. D. F. (2011) · Cited by 1
Genetics, Epidemiology, and Counseling
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Squamous Cell Carcinoma of the Vulva in Turner Syndrome
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“TS patients are at a significantly higher risk for developing DM2 than the rest of the population [17]; studies in Denmark have shown that the risk increased 3-4 times [6].”
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“For dissolution therapy, in addition to pineapple juice, lavage with cola drinks has also been used.(5,6) For this patient, pineapple juice ingestion was preferred because of its less invasive nature and its long history of use.”
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Imaging of the brain and pituitary
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Emerging Aspects of Turner Syndrome
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“Children and younger and middle-aged adult patients with TS have low bone mineral density (BMD) and studies show that fracture risk is increased.(1,61,62) pointing towards the major clinical manifestation of the decreased BMD.”
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Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome
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Universidad San Francisco de Quito Colegio de Ciencias de la Salud
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Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
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“Increased mortality in TS is due to its CV complications [7].”
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The Heart and Vasculature in Turner Syndrome: Development, Surveillance, and Management
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Endocrine and Metabolic Consequences of Turner Syndrome
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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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