Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years’ Controlled Follow-up Study
Authors' 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.
Study context
- Population
- Women with turner syndrome (TS) evaluated every fifth year at adult Turner centers, University Hospitals, Sweden, 1994 to 2020
- Participants
- 503 vs 401
- Exposure
- Women with TS vs population controls
- TSn = 503
- Controlsn = 401reference
- Outcome
- Prevalence of autoimmune diseases in TS
Methodological detailscontrolled, 25-year follow-up, consecutive evaluation every fifth year
- Controlled
- 25-year follow-up
- Consecutive evaluation every fifth year
Main finding
As reported in the abstract
Prevalence of autoimmune diseases in TS from study start · mean follow-up 16 ± 7 years (TS), 13 ± 1 years (controls)
- Hypothyroidism prevalence in TS, from study start
- 40% to 58%
- Vitamin B12 deficiency prevalence in TS, from study start
- 5% to 12%
- Celiac disease prevalence in TS, from study start
- 4% to 7%
- Positive antithyroid peroxidase (anti-TPO) prevalence in TS, from study start
- 26% to 41%
- Antitransglutaminase antibodies prevalence in TS, from study start
- 6% to 8%
Observational data: associations, not effects.
Further findings
Other autoimmune diseases
- T1D and Addison disease were rare
Interrelationship between autoimmune diseases
- The only interrelationship was between hypothyroidism and vitamin B12 deficiency, both in TS and controls
Association with karyotype, prior GH treatment or ongoing estrogen replacement in TS
- No association between autoimmune disease and karyotype, antecedent GH treatment or ongoing estrogen hormone replacement in TS
Original publication
Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years’ Controlled Follow-up Study. J Clin Endocrinol Metab. Published 27 September 2023. doi:10.
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