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. 2024 Jan 18;109(2):e602-e612.
doi: 10.1210/clinem/dgad566.

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study

Sabine Naessén  1   2 , Malin Eliasson  3 , Kerstin Berntorp  4   5 , Margareta Kitlinski  6 , Penelope Trimpou  7   8 , Emily Amundson  8   9 , Sofia Thunström  8   10 , Bertil Ekman  11 , Jeanette Wahlberg  12   13 , Anders Karlsson  14 , Magnus Isaksson  14 , Ingrid Bergström  15 , Carina Levelind  1 , Inger Bryman  16 , Kerstin Landin-Wilhelmsen  7   8
Affiliations

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study

Sabine Naessén et al. J Clin Endocrinol Metab. .

Abstract

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.

Keywords: Turner syndrome; autoimmunity; celiac disease; hypothyroidism; vitamin B12 deficiency.

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Figures

Figure 1.
Figure 1.
Prevalence (%) of different autoimmune diseases in women with Turner syndrome and population-based controls, the WHO MONICA study, after up to 25 years’ follow-up. Significances for tests between patients and controls are given above each paired bar.
Figure 2.
Figure 2.
Prevalence (%) of autoimmune disease after up to 25 years’ follow-up in different age groups (years) of women with Turner syndrome in Sweden.
See this image and copyright information in PMC

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