GONADAL DYSGENESIS IN THREE SISTERS

Abstract

Elevated levels of serum acid phosphatase are recorded in 3 sisters with gonadal dysgenesis. The clinical features included primary amenorrhea occurring in feminine-appearing women who did not show other stigmata of the Bonnevie-Ullrich-Turner syndrome. The nuclear chromatin sex pattern in the cells of the skin, blood, and vaginal smear was female. The presence of “marked osteoporosis and vertebral epiphysitis” was noted in all. It is suggested that these bony changes constitute an incomplete form of osteogenesis imperfecta, which probably accounts for the abnormally high levels of scrum acid phosphatase.