A case of a sex-reversed 46,XY female with endodermus sinus tumor.

ABSTRACT

We describe.a 46,XY female with complete gonadal dysgenesis, who developed an endodermal sinus tumor in her peritoneal cavity at 21 years of age. Histological investigations for gonadal dysgenesis revealed a complete absence of testicular development. Molecular studies indicated that the sex determining gene, SRY, was not mutated and that the DSS locus at Xp21.3 was present as a single copy. The possible molecular mechanisms of sex reversal and endodemal sinus tumor in this patient are discussed.