A CASE OF GONADAL DYSGENESIS IN A PATIENT WITH A 46/XY KARYOTYPE, PHALLIC ENLARGEMENT AND ABSENCE OF SEMINIFEROUS TUBULES

Abstract

ABSTRACT Among the patients with gonadal dysgenesis, the cases with phallic enlargement, but without the somatic malformations seen in Turner's syndrome, are classified as a special group. This group includes chromatin-negative as well as chromatin-positive cases. A patient is described with gonadal dysgenesis, XY karyotype, absence of seminiferous tubules in streak gonads, presence of female internal and external genitalia and phallic enlargement. The problems of sex-determination and differentiation are discussed with regard to this patient.