Gonadoblastoma occurring in a female with XO/XY fragment gonadal dysgenesis

摘要: Abstract A case of a unilateral gonadoblastoma occurring in chromatin-negative phenotypic female with 45, XO/46, XY fragment mosaic chromosome constitution is presented. The presumably arose testis-determined rudimentary gonad and the contralateral streak was undifferentiated, giving typical picture gonadal dysgenesis neoplastic transformation. condition may be gene determined maternally transmitted either by an X-linked recessive or autosomal dominant expression only chromosomal males. Current hypotheses concerning development dysgenetic gonads their potential malignant transformation are reviewed discussed.