Autoimmune disease in Turner syndrome in Sweden: an up to 25 years’ controlled follow-up study.
Open accessAbstract
CONTEXT: Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS. OBJECTIVE: This work aimed to study the prevalence of autoimmune diseases in TS. METHODS: A cross-sectional, longitudinal, 25-year follow-up study was conducted of patients from adult Turner centers at the University Hospitals, Sweden. During 1994 to 2020, a total of 503 women aged 16 to 71 years with TS were evaluated consecutively every fifth year according to national guidelines. A random population sample of women, n = 401, aged 25 to 44 years, from the World Health Organization Monitoring of Trends and Determinants for Cardiovascular Disease (MONICA) project served as controls. Serum thyrotropin, free thyroxine, vitamin B12, antithyroid peroxidase (anti-TPO), and antitransglutaminase antibodies were measured. RESULTS: Mean follow-up time (years) was 16 ± 7 for patients and 13 ± 1 for controls. From study start, the prevalence increased in TS for hypothyroidism 40% to 58%, vitamin B12 deficiency 5% to 12%, celiac disease 4% to 7%, positive anti-TPO 26% to 41%, and antitransglutaminase antibodies 6% to 8% (P < .0001 vs controls). Type 1 diabetes and Addison disease were rare. The only interrelationship was between hypothyroidism and vitamin B12 deficiency, both in TS and controls. No association between autoimmune disease and karyotype, antecedent growth hormone treatment, or ongoing estrogen hormone replacement, was seen in TS. CONCLUSION: In women with TS up to older than 80 years, more than half developed hypothyroidism, mainly autoimmune, during follow-up. Awareness of vitamin B12 deficiency and celiac disease throughout life is also recommended in women with TS.
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The prevalence of coeliac disease increases with age and is highest in 45,X, 45,X/iso q or ring chromosome karyotypes where up to 7.5% have positive coeliac antibodies.
“The prevalence of coeliac disease increases with age725,726 and is highest in 45,X, 45,X/iso q or ring chromosome karyotypes where up to 7.5% have positive coeliac antibodies.26,630”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [726]
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- Authors
- Naessén, S., Eliasson, M., Berntorp, K., Kitlinski, M., Trimpou, P., Amundson, E., Thunström, S., Ekman, B., Wahlberg, J., Karlsson, A., Isaksson, M., Bergström, I., Levelind, C., Bryman, I., & Landin-Wilhelmsen, K.
- Affiliations
- Karolinska Institutet (SE)
- Ideas42 (US)
- Lund University (SE)
- Skåne University Hospital (SE)
- Sahlgrenska University Hospital (SE)
- Linköping University Hospital (SE)
- Örebro University (SE)
- Uppsala University (SE)
- University of Gothenburg (SE)
- Section of Endocrinology, Sahlgrenska University Hospital , 413 45 Gothenburg , Sweden
- Corresponding author
- Naessén, Sabine
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2023-09-27
- Volume
- 109
- Issue
- 2
- Pages
- e602-e612
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC10795927
- OpenAlex
- W4387113236
- Cited by
- 12
- References
- 32
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 3
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Uppsala University Publications (Uppsala University) (submittedVersion, other-oa)
- KTH Publication Database DiVA (KTH Royal Institute of Technology) (submittedVersion, other-oa)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- The Swedish Heart and Lung Foundation
- The Faculty of Medicine at University of Gothenburg
- The National Board of Health and Welfare (Dnr 1471:806, 94-100, Swedish Research Council, Forte 2013-1737)
- Swedish government
- county councils
- ALF-agreement (Dnr ALFGBG-682061, ALFGBG-2895)
- 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 › Thyroid Disorders and Treatments
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Keywords
- Turner syndrome, autoimmune disease, autoimmune hypothyroidism, vitamin B12 deficiency, celiac disease, thyroid peroxidase antibodies, type 1 diabetes, Addison's disease, prevalence, long-term follow-up, karyotype, growth hormone therapy
- MeSH terms
- Addison Disease, Adult, Antibodies, Celiac Disease, Cross-Sectional Studies, Female, Follow-Up Studies, Humans, Hypothyroidism, Sweden, Turner Syndrome, Vitamin B 12 Deficiency
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