Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Naessén, Sabine ; Eliasson, Malin ; Berntorp, Kerstin LU ; Kitlinski, Margareta LU ; Trimpou, Penelope ; Amundson, Emily ; Thunström, Sofia ; Ekman, Bertil ; Wahlberg, Jeanette and Karlsson, Anders , et al. (2024) In The Journal of clinical endocrinology and metabolism 109(2). p.602-612
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... (More)

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.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
autoimmunity, celiac disease, hypothyroidism, Turner syndrome, vitamin B12 deficiency
in
The Journal of clinical endocrinology and metabolism
volume
109
issue
2
pages
602 - 612
publisher
Oxford University Press
external identifiers
  • pmid:37758506
  • scopus:85182955603
ISSN
1945-7197
DOI
10.1210/clinem/dgad566
language
English
LU publication?
yes
id
6c138f30-f451-417e-9846-dd25e87ed137
date added to LUP
2024-02-19 14:10:57
date last changed
2024-04-19 16:13:23
@article{6c138f30-f451-417e-9846-dd25e87ed137,
  abstract     = {{<p>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 &lt; .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.</p>}},
  author       = {{Naessén, Sabine and Eliasson, Malin and Berntorp, Kerstin and Kitlinski, Margareta and Trimpou, Penelope and Amundson, Emily and Thunström, Sofia and Ekman, Bertil and Wahlberg, Jeanette and Karlsson, Anders and Isaksson, Magnus and Bergström, Ingrid and Levelind, Carina and Bryman, Inger and Landin-Wilhelmsen, Kerstin}},
  issn         = {{1945-7197}},
  keywords     = {{autoimmunity; celiac disease; hypothyroidism; Turner syndrome; vitamin B12 deficiency}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{602--612}},
  publisher    = {{Oxford University Press}},
  series       = {{The Journal of clinical endocrinology and metabolism}},
  title        = {{Autoimmune Disease in Turner Syndrome in Sweden : An up to 25 Years' Controlled Follow-up Study}},
  url          = {{http://dx.doi.org/10.1210/clinem/dgad566}},
  doi          = {{10.1210/clinem/dgad566}},
  volume       = {{109}},
  year         = {{2024}},
}