Gazulla et al. (2009) reported the case of a 37-year-old woman with AOA2 with a Val919Thrfs*920 homozygous variant in SETX. She had been experiencing recurrent amenorrhea for several years, with decreased 17-estradiol and elevated FSH, which was consistent with postmenopausal levels (Gazulla et al., 2009). The gene discussed is SETX; the disease is amenorrhea.