KHDC3L and Autoimmune polyendocrinopathy type 1: In this study, clinical metadata encompassing disease status across 24 individual disease manifestations in a total of 67 people with APS1 was leveraged to uncover (among others) an association of anti-KHDC3L antibodies and ovarian insufficiency, a disease that affects over half of all women with APS1 and manifests as abnormal menstrual cycling, reduced fertility, and early menopause.