Dysgerminomas (seminomas) in genetic males with female phenotype. One case of gonadal dysgenesis and gonadoblastoma and one of testicular feminization.
Gonadal tumors in patients with somatosexual ambiguity are rare but of considerable clinical and pathological interest. Two patients with dysgerminomas and abnormal sexual differentiation were recently treated at the Department of Gynecologic Oncology. One (Case 1) was an 18-year old girl and the other (Case 2) an unmarried woman of 58 years. In spite of their female phenotype both showed a male genotype, 46, XY. In Case 1 the dysgerminoma (or rather seminoma) originated in a gonadoblastoma in one of two dysgenetic testes but in Case 2 in one of two "feminizing testes". The clinico-pathological features of both cases will be reported and commented and the relation between the germ cell tumors, gonadal dysgenesis and the Y-chromosome will be discussed.
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000473:pathology; D004407:Dysgerminoma / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013736:Testicular Neoplasms / Q000235:genetics / Q000473:pathology; D014424:Turner Syndrome / Q000150:complications* / Q000473:pathology; D014998:Y Chromosome