Zhao et al. (2008) analyzed the FIGLA gene in 100 Chinese women with premature ovarian failure and identified a 22-bp deletion (608697.0001) and a 3-bp in-frame deletion (140delN; 608697.0002) in 2 patients, respectively. The mutations were not found ... Zhao et al. (2008) analyzed the FIGLA gene in 100 Chinese women with premature ovarian failure and identified a 22-bp deletion (608697.0001) and a 3-bp in-frame deletion (140delN; 608697.0002) in 2 patients, respectively. The mutations were not found in 340 female controls with regular menstrual cycles and no history of infertility. Functional analyses demonstrated that the 140delN mutant disrupted FIGLA binding to TCF3 (147141). The patient with the 22-bp deletion was a 36-year-old Chinese woman with premature ovarian failure who underwent menarche at 14 years of age with subsequent irregular menstrual cycles, gave birth to a healthy girl at 23 years of age, and presented at age 36 with secondary amenorrhea, hot flashes, and vaginal dryness. Her FSH concentration was 48.1 IU/L initially and 50.6 IU/L subsequently; pelvic ultrasonography showed a small uterus and bilateral streak ovaries devoid of follicles. The mutation was inherited from her father, who had no evident somatic anomalies; her mother and daughter did not carry the mutation and had no reproductive or menstrual dysfunction. The patient with the 140delN mutation was a 29-year-old Chinese woman who underwent menarche at 14 years of age and had normal menstrual cycles until she developed secondary amenorrhea at 27 years of age. FSH concentrations were highly elevated on 2 separate measurements, at 70.4 IU/L and 89.6 IU/L, respectively. Transvaginal ultrasonography showed a small uterus, atrophic endometrium, and a small right ovary devoid of follicles; the left ovary was not visualized.