- 2/2 postpubertal females developed secondary amenorrhea- 5/6 prepubertal females had primary amenorrhea and required hormone replacement- 1/6 prepubertal female had spontaneous menarche- 6/6 males adolescent boys had normal sexual development- 4/6 males had decreased testosterone and elevated FSH-1/6 males had elevated LH. The gene discussed is PLOD1; the disease is Primary amenorrhea.