Three types of primary amenorrhea can be observed: (1) 46,XX amenorrhea with high FSH concentration, which usually corresponds to a reduction in the number of primary follicles, accelerated follicular atresia, or follicular dysfunction; (2) 45,X0 amenorrhea associated with Turner syndrome; and (3) amenorrhea due to 46,XY DSD. Here, BRD2 is linked to Turner syndrome.