Individuals who have a Difference of Sex Development and Y chromosomal material in their (gonadal) karyotype are at increased risk for developing a malignant gonadal germ cell cancer (GCC). These GCC can be either seminomas (dysgerminomas) or non-seminomas and are always preceded by an in situ neoplastic lesion: germ cell neoplasia in situ in a (dysgenetic) testicular context or gonadoblastoma in a context of undifferentiated gonadal tissue. Therefore, prophylactic gonadectomy in childhood has long been a standard procedure.
As it becomes increasingly clear that the risk for GCC development varies widely across diagnoses and that often the gonads produce hormones that are beneficial for patients, gonadectomy is now often postponed until adulthood, or replaced by a watchful surveillance program for gonads in situ.
In this session, the pathobiology of gonadal GCC is explained from a developmental perspective, and risk profiles per group of conditions presented. Unfortunately, tools for the surveillance of abdominal gonads are limited and none of the available techniques can reliably detect an early in situ neoplastic lesion. The available tools are briefly outlined and practical recommendations are given that can be readily applied in a clinical context.