Bilateral gonadoblastoma with chromosomal aberration.
A case is presented of a patient with bilateral gonadoblastoma characterized by primary amenorrhea and intense, generalized hirsutism. The physical examination showed somatic stigmas compatible with gonadal dysgenesis. Pneumopelvigraphy showed a uterus and hypoplastic gonads; no microcalcification was seen. Negative sex chromatin in buccal mucosal cells and a 46, XXr/46,XXp-q-45,X karyotypic constitution was found.
D000293:Adolescent; D004407:Dysgerminoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006066:Gonads / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology