Autoimmune Diseases and Turner Syndrome: a Brief Overview

This post provides a general overview of autoimmune diseases associated with Turner Syndrome (TS).

Note: This post is solely intended to inform and educate readers. It should not be considered medical advice and is not a substitute for recommendations or treatment from your healthcare provider(s).

What Is an Autoimmune Disease?

To understand the association with TS, let’s first discuss what an autoimmune disease is. Whenever you have an infection like a common cold, your body works to create antibodies to fight the foreign invaders. Sometimes your immune system might go overboard. When this happens, it produces auto-antibodies that fight against your own body. This condition is called an autoimmune disease.

Some common autoimmune diseases include Hashimoto’s thyroiditis (thyroid), rheumatoid arthritis (joints), and inflammatory bowl disease, or IBD (intestines).

How Is TS Linked to Autoimmune Diseases?

Patients with TS can have more auto-antibodies with age, which makes them at higher risk for developing autoimmune diseases. However, some studies have shown that this risk is very low prior to school age. Overall, patients with TS have a 2-3x higher incidence of autoimmune disease compared to the general population.

One of the most prevalent autoimmune diseases in patients with TS is celiac disease (CD), affecting about 4.2 to 6.4% of patients with TS. CD is an immune reaction to eating gluten, a protein found in certain grains (wheat, barley, and rye), that affects the small intestine.

Some other common autoimmune diseases in patients with TS include:

  • Hashimoto’s thyroiditis,
  • pernicious anemia,
  • Addison disease,
  • IBD, 
  • diabetes,
  • autoimmune hepatitis,
  • autoimmune colitis,
  • thrombocytopenia, and
  • juvenile rheumatoid arthritis.

“Health care providers dealing with this patient group should be observant and test liberally for these conditions, even before clinical symptoms emerge, regardless of comorbidity and karyotype.”

Recommended Screenings

Patients with TS should have the following screenings to ensure early diagnosis:

  • celiac disease, starting at two to three years of age, every two years, throughout childhood and if symptoms present in adulthood; and
  • hypothyroidism, at TS diagnosis and then annually with T4 (thyroxine) and TSH (thyroid stimulating hormone) levels, beginning in early childhood and throughout the patient’s life.
  • diabetes, with HgbA1c (hemoglobin A1c, a measure of long-term glucose control), should be checked annually starting at the age of 10 years

Interested in learning more about TS and Autoimmune Disease? Please check out the recent webinar recording!

Written by Dhruvi Patel, TSF volunteer blog post writer. Edited by Susan Herman, TSF volunteer blog post editor and translator.

For more information on the treatment of TS, click here.


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