Sex chromosome and chromatin examination in gynecology.

Abstract

Sex chromosome and chromatin examinations with hormone determinations were done on 41 cases seen at the gynecologic clinic suspected of having sexual developmental abnormalities. 22 (53.7%) had genetic, gonadal or hormonal abnormalities, including ovarian dysgenesis 9 cases, superfemale 1 case, XY pure gonadal dysgenesis 4 cases, 3 of whom had already developed gonadal malignancy, pseudovaginal perineoscrotal hypospadias 1 case, androgen insensitivity syndrome 2 cases and congenital adrenal hyperplasia 3 cases. The values and limitations of sex chromosome and chromatin examinations as well as the prevention of gonadal malignancy are discussed.