Thyroid Autoimmunity in Girls with Turner Syndrome

  • Ewelina Witkowska-SędekEmail author
  • Ada Borowiec
  • Anna Kucharska
  • Karolina Chacewicz
  • Małgorzata Rumińska
  • Urszula Demkow
  • Beata Pyrżak
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1022)


Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6–18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.


Autoimmunity Hypothyroidism Karyotype Thyroid disease Turner syndrome 


Conflicts of Interest

The authors declare no conflicts of interest in relation to this article.


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Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  • Ewelina Witkowska-Sędek
    • 1
    Email author
  • Ada Borowiec
    • 1
  • Anna Kucharska
    • 1
  • Karolina Chacewicz
    • 1
  • Małgorzata Rumińska
    • 1
  • Urszula Demkow
    • 2
  • Beata Pyrżak
    • 1
  1. 1.Department of Pediatrics and EndocrinologyMedical University of WarsawWarsawPoland
  2. 2.Department of Laboratory Diagnostics and Clinical Immunology of Developmental AgeMedical University of WarsawWarsawPoland

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