Among the 14 girls, five had normal puberty (early in one)—four with regular menses and one in the process of puberty—, four had complete LH/FSH deficiencies, and five had amenorrhea (primary in three and secondary in two) after normal pubertal development, despite a pubertal increase in LH/FSH after the GnRH test in the four girls evaluated. The gene discussed is BRD2; the disease is amenorrhea.