Autoimmune Disease is Increased in Women With Primary Ovarian Insufficiency

Victoria Wang, Jessica A Walsh, JoAnn Zell, Lauren E Verrilli, Joseph M Letourneau, Erica B Johnstone, Kristina Allen-Brady, Corrine K Welt
The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 8, August 2025, Pages e2614–e2620
https://doi.org/10.1210/clinem/dgae828

Abstract

Context

Autoimmune disease is common in women with primary ovarian insufficiency (POI), and the genetic etiology of autoimmune disease suggests that it could be hereditary in families of women with POI.

Objective

We hypothesized that a subset of women with POI and their family members would have an increased risk for autoimmune disorders.

Design

Population-based study using electronic health records from 1995 to 2022.

Setting

Two major Utah healthcare systems serving 85% of the state.

Subjects

Women with POI (n = 610) were identified using International Classification of Diseases (ICD) codes and charts were reviewed for accuracy. First-, second-, and third-degree relatives were identified using genealogy data in the Utah Population Database.

Intervention

Autoimmune diagnoses were identified using ICD codes.

Main Outcome Measures

The relative risk of autoimmune disease in women with POI and relatives was estimated by comparison to population rates.

Results

At least 1 autoimmune disease was identified in 25% of women with POI. The relative risk of autoimmune hypothyroidism (odds ratio [95% confidence interval] 6.88 [5.71, 8.22]; P < .001), adrenal insufficiency (4.72 [1.73, 10.28]; P = .0020), type 1 diabetes (4.13 [2.14, 7.22]; P = 5.25X10⁻⁵), rheumatoid arthritis (5.66 [3.10, 9.50]; P = 3.70X10⁻⁷), vitiligo (15.33 [6.16, 31.58]; P = 5.25X10⁻⁷), celiac disease (7.58 [3.47, 14.39]; P = 4.47X10⁻⁶), psoriasis (3.90 [2.01, 6.81]; P = 9.04X10⁻⁵) and systemic lupus erythematosus (4.43 [1.63, 9.64]; P = .0027) were increased in women with POI compared to population rates. There was no increased risk of autoimmune disease in family members.

Conclusion

Data confirm increased autoimmune disease in women with POI. The increased risk is largely related to autoimmune polyglandular syndrome types 1 through 4 and autoimmune hypothyroidism. The absence of risk in family members may result from differences in environmental influences or hormone milieu.

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