Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome—a nationwide cohort study
Open accessAbstract
BACKGROUND: Liver and gastrointestinal diseases are frequent in women with Turner syndrome. However, their association with bleeding disorders, anaemia and the impact of hormone replacement therapy is unknown. AIMS: To investigate the risk of liver and gastrointestinal diseases, haemorrhage and anaemia in women with Turner syndrome compared with the female background population, and the long-term impact of hormone replacement therapy on these conditions. METHODS: One thousand one hundred and fifty-six women with Turner syndrome diagnosed during 1960-2014 were identified using the Danish Cytogenetic Central Registry and linked with personal-level data from the National Patient Registry and the Medication Statistics Registry. Statistics Denmark randomly identified 115 577 age-matched female controls. Negative binomial regression was used to analyse hospital discharge diagnoses. Medical prescriptions, mortality and the effect of hormone replacement therapy were estimated using stratified Cox regression. RESULTS: Liver disease increased 13-fold (IRR 12.9 (95% CI 5.8-28.8)), due to toxic liver disease (IRR 8.0 (95% CI 1.8-35.4)), liver insufficiency (IRR 6.7 (95% CI 1.7-26.9)), fibrosis/cirrhosis (IRR 16.5 (95% CI 2.2-122.1)) and unspecified liver disease (IRR 10.6 (95% CI 4.4-25.3)). Furthermore, presence of abnormal liver enzymes increased 12-fold (IRR 12.4 (95% CI 4.2-36.6)). The risk of gastrointestinal haemorrhage (IRR 3.4 (95% CI 1.8-6.2)), anaemia (IRR 3.2 (95% CI 2.0-5.0)) and coagulation disorders (IRR 2.9 (95% CI 1.1-7.1)) was increased. However these diagnoses were not associated with inflammatory bowel disease. Gastrointestinal mortality was increased three-fold (HR 3.1 (95% CI 1.5-6.2)), partly due to death by liver disease (HR 3.0 (95% CI 1.1-8.2)), gastrointestinal haemorrhage (HR 29.6 (95% CI 3.1-285.1)) and capillary malformations (HR 18.6 (95% CI 4.1-85.0)). There was no effect of hormone replacement therapy on gastrointestinal risk but a trend towards a beneficial impact on liver diseases. CONCLUSIONS: The risk of being diagnosed with liver disease was higher than previously reported. The occurrence of gastrointestinal haemorrhage and anaemia was increased in Turner syndrome. There was no effect of hormone replacement therapy on gastrointestinal risk but a trend towards a beneficial impact on liver diseases was detected.
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There is no evidence of liver toxicity from E2 treatment.
“No evidence of liver toxicity”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
Even young children with TS without risk factors have a higher prevalence of LFA.
“Risk factors for LFA are age, obesity, insulin resistance, and Xq isochromosome, however even young children with TS without risk factors have a higher prevalence of LFA.342-344,714,715”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
In the presence of LFA, the risk of cirrhosis among TS is six times higher than in the general population.
“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 [344]
Risk factors for LFA in TS are age, obesity, insulin resistance, and Xq isochromosome.
“Risk factors for LFA are age, obesity, insulin resistance, and Xq isochromosome, however even young children with TS without risk factors have a higher prevalence of LFA.342-344,714,715”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
LFA, defined as increased liver enzymes, are present in 40%-80% of patients with TS, with more recent studies on the high end of that estimate.
“LFA, defined as increased liver enzymes are present in 40%-80% of patients with TS, with more recent studies on the high end of that estimate.342-344,714,715”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
Emerging data indicate an increased risk of iron-deficiency anemia among TS populations.
“Emerging data indicate an increased risk of iron-deficiency anemia among TS populations.344”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
The same Danish registry study identified an increased IRR of coagulation disorders of 2.9 (95% CI 1.1-7.1).
“A study from the national Danish registry that compared 1156 Turner women with age-matched controls identified increase incidence rate ratio (IRR) of gastrointestinal hemorrhage 3.4 (95% CI 1.8-6.2)), anemia 3.2 (95% CI 2.0-5.0), and coagulation disorders 2.9 (95% CI 1.1-7.1).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
A study from the national Danish registry comparing 1156 Turner women with age-matched controls identified an increased incidence rate ratio (IRR) of gastrointestinal hemorrhage of 3.4 (95% CI 1.8-6.2).
“A study from the national Danish registry that compared 1156 Turner women with age-matched controls identified increase incidence rate ratio (IRR) of gastrointestinal hemorrhage 3.4 (95% CI 1.8-6.2)), anemia 3.2 (95% CI 2.0-5.0), and coagulation disorders 2.9 (95% CI 1.1-7.1).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
Several studies have shown that HRT is not deleterious to liver function in patients with TS and there may even be benefit.
“Several studies have shown that HRT is not deleterious to liver function in patients with TS and there may even be benefit.344”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
The same Danish registry study identified an increased IRR of anemia of 3.2 (95% CI 2.0-5.0).
“A study from the national Danish registry that compared 1156 Turner women with age-matched controls identified increase incidence rate ratio (IRR) of gastrointestinal hemorrhage 3.4 (95% CI 1.8-6.2)), anemia 3.2 (95% CI 2.0-5.0), and coagulation disorders 2.9 (95% CI 1.1-7.1).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
The incidence of coeliac disease is increased in TS compared to the background female population, consistent with other autoimmune diseases.
“The incidence of coeliac disease is increased in TS compared to the background female population consistent with other autoimmune diseases,344 although the mechanism remains speculative.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
In the Danish registry study, anemia and gastrointestinal bleeding were not associated with IBD or celiac disease.
“Interestingly anemia and gastrointestinal bleeding were not associated with IBD or celiac disease.344”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [344]
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Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome
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“However, a trend towards a beneficial impact of HRT on TS-related liver disease has been observed in national patient registries [8], retrospective studies [48], and longitudinal studies [49].”
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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
- Authors
- Viuff, M. H., Stochholm, K., Grønbæk, H., Berglund, A., Juul, S., & Gravholt, C. H.
- Affiliations
- Aarhus University Hospital (DK)
- Aarhus University (DK)
- Corresponding author
- Viuff, Mette Hansen
- ORCID
- Venue
- Alimentary Pharmacology & Therapeutics
- Publisher
- Wiley
- Published
- 2021-02-07
- Volume
- 53
- Issue
- 7
- Pages
- 821-829
- ISSN
- 0269-2813 (ISSN-L)
- 1365-2036
- OpenAlex
- W3127756023
- Cited by
- 30
- References
- 48
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 5 · 2023: 6 · 2022: 5 · 2021: 2
- FWCI
- 2.54
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Alimentary Pharmacology & Therapeutics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Aarhus Universitets Forskningsfond
- Novo Nordisk Foundation Center for Basic Metabolic Research (NNF13OC0003234, NNF15OC0016474)
- 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
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Sex and Gender in Healthcare
- Keywords
- Turner syndrome, liver disease, gastrointestinal diseases, anemia, gastrointestinal bleeding, coagulopathy, hormone replacement therapy, liver cirrhosis, liver insufficiency, capillary malformation, inflammatory bowel disease, women, bleeding disorders, long-term outcomes, Denmark, hospital discharge diagnoses, mortality, prescription data
- MeSH terms
- Anemia, Denmark, Female, Gastrointestinal Diseases, Humans, Liver, Turner Syndrome, Cohort Studies, Incidence
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