| Abstract: | Cytogenetic studies in 48 cases of primary amenorrhea are reported. The following abnormalities were analyzed: 3 cases of Turner's syndrome, 3 cases of Turner's mosaicism, 3 cases of feminizing testes, 2 cases of incomplete testicular feminization syndrome of Morris and Mahesh, 7 cases of Mullerian agenesis with absent vagina and functioning ovaries, 13 cases of gonadal dysgenesis with streak gonads, 1 case of pure gonadal dysgenesis, 2 cases of imperforate hymen with hematocolpos and hematometra, 1 case of tubovarian mass and 1 case of juvenile polycystic ovarian syndrome. It is suggested that management of an patient with primary amenorrhea whose sex karyotype includes an XY cell line should include gonadal excision because of increased risk of neoplasia. |
