Autoimmune disease in Turner syndrome in Sweden: An up to 25 years´ controlled follow-up studyShow others and affiliations
2024 (English)In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 109, no 2, p. e602-e612Article in journal (Refereed) Published
Abstract [en]
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: To study the prevalence of autoimmune diseases in TS.
DESIGN AND SETTING: A cross sectional, longitudinal, 25-year follow-up study of patients from adult Turner Centers at the University Hospitals, Sweden. PARTICIPANTS, INTERVENTIONS: During 1994-2020, 503 women aged 16-71 years, with TS were evaluated consecutively every 5th year according to national guidelines. A random population sample of women, n = 401, 25-44 years, from the WHO MONICA project served as controls.
MAIN OUTCOME MEASURES: Serum TSH, free T4, vitamin B12, anti-thyroperoxidase (anti-TPO) and anti-transglutaminase 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 anti-transglutaminase antibodies 6% to 8% (p < 0.0001 vs controls). Type 1 diabetes and Addison´s disease was 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.
CONCLUSIONS: In women with TS up to over 80 years of age, 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.
Place, publisher, year, edition, pages
Oxford University Press, 2024. Vol. 109, no 2, p. e602-e612
Keywords [en]
Turner syndrome, autoimmunity, celiac disease, hypothyroidism, vitamin B12 deficiency
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:oru:diva-108594DOI: 10.1210/clinem/dgad566ISI: 001086257400001PubMedID: 37758506Scopus ID: 2-s2.0-85182955603OAI: oai:DiVA.org:oru-108594DiVA, id: diva2:1800840
Funder
Swedish Heart Lung FoundationForte, Swedish Research Council for Health, Working Life and Welfare, 2013-1737
Note
This work was supported by grants from 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), the Swedish Research Council for Health Working Life and Welfare (Forte 2013-1737), and by grants from the Swedish state under the agreement between the Swedish government and the county councils, and the ALF-agreement (Dnr ALFGBG-682061 and ALFGBG-2895).
2023-09-282023-09-282024-01-29Bibliographically approved