Some disorders of abnormal sexual differentiation are associated with neoplasia more often than expected by probability. This phenomenon is not well understood, although it is not surprising because the relationship between neoplasia and maldevelopment of any organ system is poorly understood, and a satisfactory delineation for most disorders of abnormal sexual differentiation has only recently been possible. The purpose of this communication is to survey the disorders of abnormal sexual differentiation with respect to frequency of neoplasia. The authors summarize the ovarian and testicular tumors that are most commonly associated with disorders of abnormal sexual differentiation, discuss the relationship between cryptorchidism and testicular neoplasia, estimate the risk of neoplasia in various disorders and suggest clinical management when appropriate considering the role of various factors in neoplastic transformation.
