Autoimmune Disease is Increased in Women With Primary Ovarian Insufficiency.
Level 3 - non-randomized controlled study
Retrospective population-based comparative cohort study linked to genealogical database
PubMed 39607709 · doi:10.1210/clinem/dgae828
What was done
A population-based retrospective study was conducted using electronic health records (1995–2022) from two major healthcare systems in Utah linked to the Utah Population Database. Chart-verified cases of primary ovarian insufficiency (POI, n = 610) were identified by ICD codes. First-, second-, and third-degree relatives were identified through genealogical data. The relative risk of autoimmune diagnoses (identified via ICD codes) in women with POI and their relatives was estimated by comparison to population baseline rates.
What was found
At least one autoimmune disease was identified in 25% of women with POI. Compared to population rates, women with POI had significantly increased risks for multiple autoimmune conditions: - Vitiligo: OR 15.33 (95% CI: 6.16–31.58; P = 5.25 × 10⁻⁷) - Celiac disease: OR 7.58 (95% CI: 3.47–14.39; P = 4.47 × 10⁻⁶) - Autoimmune hypothyroidism: OR 6.88 (95% CI: 5.71–8.22; P < .001) - Rheumatoid arthritis: OR 5.66 (95% CI: 3.10–9.50; P = 3.70 × 10⁻⁷) - Adrenal insufficiency: OR 4.72 (95% CI: 1.73–10.28; P = .0020) - Systemic lupus erythematosus: OR 4.43 (95% CI: 1.63–9.64; P = .0027) - Type 1 diabetes: OR 4.13 (95% CI: 2.14–7.22; P = 5.25 × 10⁻⁵) - Psoriasis: OR 3.90 (95% CI: 2.01–6.81; P = 9.04 × 10⁻⁵) No increased risk of autoimmune disease was found among first-, second-, or third-degree relatives.
Why it matters
One in four women with POI has a co-occurring autoimmune condition, reinforcing the need for multi-organ autoimmune surveillance. The absence of increased risk in relatives suggests individual hormonal, environmental, or epigenetic factors drive the association rather than broad familial inheritance.
Limits
The study population was restricted to Utah healthcare systems, which may limit generalizability across diverse demographics. Relatives' autoimmune diagnoses were identified solely through ICD codes without manual chart review, introducing potential misclassification bias. Specific autoantibody profiles and temporal sequence of diagnoses were not reported in the abstract.
Cited by
- context Approximately 50% of the time, investigation into a low AMH level reveals an underlying autoimmune disease.