Presentation description

Primary ovarian insufficiency (POI) is characterized by early loss of oocytes before the age of 40. One cause is the Fragile X premutation (FMR1), which involves an expansion of the CGG (55-200) repeat in the untranslated region of the gene. We hypothesized that approximately 2%-13% of women with POI would have a FMR1, which would also be found in their relatives. To test this, we utilized electronic health records from the University of Utah Health and Intermountain Healthcare to identify patients with the International Classification of Diseases (ICD) code for POI (E28.39). For these women, we used the Utah Population Database to identify their first, second, and third-degree relatives. We found the FMR1 code (Q99.2) in the electronic health records for all subjects. We estimated the relative risk (RR) for FMR1 in women with POI compared to the general population in Utah. We found that 610 patients have POI and nine of them (1.4%) have the FMR1. The relative risk (RR) of FMR1 for women with POI is 203 (95% CI: 97, 373; p<0.001). The RR was 17 (95% CI: 4, 50; p<0.00078) for first-degree relatives, 10 (95% CI: 2, 29; p<3.52) for second-degree relatives, and 4 (95% CI: 0.8, 12; p<4.025) for third-degree relatives. In conclusion our findings indicate that there are fewer women with POI who carry the FMR1 than the expected numbers in the literature. FMR1 gene has a higher chance of running in the first-third degree relatives than the Utah population because it is inherited.