Brooke Austin

BACKGROUND: Patients with Primary Ovarian Insufficiency (POI) have higher rates of autoimmune disease. Mechanisms driving this correlation remain unclear, but may be connected to the X chromosome, genetics, and/or ovarian hormones. Turner syndrome, a condition with a missing/abnormal X chromosome, is a common cause of POI. We compared the prevalence of autoimmune conditions in Turner patients against those of POI patients with other causative etiologies. We hypothesized a higher prevalence of autoimmunity with Turner patients, thereby suggesting X chromosome abnormalities as a driving mechanism.

METHODS: Patient cases were obtained using International Classification of Disease (ICD) codes through electronic medical records at the University of Utah Health and Intermountain Healthcare. Autoimmune diagnoses were identified via ICD codes (POI cases) or chart review (Turner cases).

RESULTS: Statistical methods revealed minimal differences between proportions of autoimmune conditions and/or an inadequate sample size. Data trends showed a higher prevalence of adrenal insufficiency, vitiligo, and rheumatoid arthritis within the POI group (n = 610). Turner patients (n = 392) trended towards higher prevalence of Crohn’s and Celiac disease.

DISCUSSION: Results are consistent with previous studies demonstrating a higher prevalence of GI-related autoimmune conditions with Turner patients. Multiple autoimmune conditions appear more common in women with POI of other genetic etiologies. Some conditions, like adrenal insufficiency, could be correlated because autoimmunity is driving POI. Other conditions, like rheumatoid arthritis, typically do not impact endocrine organs. Mechanisms for association with POI need further study but could be driven by genetic abnormalities not related to the X chromosome.