Study Reveals Increased Autoimmune Disease Risk in Women with Primary Ovarian Insufficiency

"We showed that 25% of women with POI are affected by at least one autoimmune disorder, with significantly higher relative risks for conditions such as autoimmune hypothyroidism, adrenal insufficiency, type 1 diabetes, rheumatoid arthritis, vitiligo, celiac disease, psoriasis, and systemic lupus erythematosus (SLE)," the researcher reported.

Autoimmune diseases are prevalent in women with primary ovarian insufficiency (POI), and the genetic basis of these conditions suggests a potential hereditary link in families of women with POI. Based on this, Corrine K Welt, Division of Endocrinology, Metabolism and Diabetes, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, and colleagues hypothesized that women with POI and their family members may have an elevated risk for autoimmune disorders.

For this purpose, the researchers designed a population-based study using electronic health records from 1995 to 2022. The study was conducted within two major healthcare systems in Utah that serve 85% of the state's population. Women with primary ovarian insufficiency were identified using ICD codes, and their records were reviewed for accuracy. First-, second-, and third-degree relatives were identified through genealogy data from the Utah Population Database.

Autoimmune diagnoses were determined using ICD codes. The main outcome measures included estimating the relative risk of autoimmune disease in women with POI and their relatives and comparing these rates to those in the general population.

Based on the study, the researchers reported the following findings:

• 25% of women with POI were diagnosed with at least one autoimmune disease.
• The relative risk of autoimmune hypothyroidism was significantly higher (OR 6.88).
• Adrenal insufficiency showed increased relative risk (OR 4.72).
• Type 1 diabetes had a higher relative risk (OR 4.13).
• The risk of rheumatoid arthritis was elevated (OR 5.66).
• Vitiligo showed a significantly higher risk (OR 15.33).
• The relative risk for celiac disease was increased (OR 7.58).
• Psoriasis had an elevated risk (OR 3.90).
• The risk for systemic lupus erythematosus (SLE) was higher (OR 4.43).
• No increased risk of autoimmune disease was observed in family members.

The data provided by the authors confirm a heightened incidence of autoimmune diseases in women with primary ovarian insufficiency. This increased risk is primarily associated with autoimmune polyglandular syndrome types 1 through 4 and autoimmune hypothyroidism.

"The lack of elevated risk among family members may be attributed to variations in environmental factors or hormonal influences," the researchers wrote.

Reference:

Wang, V., Walsh, J., Zell, J., Verrilli, L. E., Letourneau, J., Johnstone, E. B., & Welt, C. K. Autoimmune Disease is Increased in Women with Primary Ovarian Insufficiency. The Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/clinem/dgae828