Abstract
Disorders of sex development (DSD) are very diverse in ethiology. Last classification of the disorders was created in 2005.
DSD bring some specific issues, e.g. a higher risk of gonadal germ cell tumor development in patients who carry Y chromosome material in their karyotype. Germ cell tumors are represented by seminoma and nonseminomas in testicular tissue and dysgerminoma and nondysgerminomas in dysgenetic gonad.
Their noninvasive precursors are termed as carcinoma in situ and gonadoblastoma, respectively. Neoplastic germ cells are derived from fetal germ cells which were arrested in their development.
These cells express factors (e.g. OCT3/4, NANOG) which provide them with ability of pluripotency and proliferation and, therefore, take a part in pathogenesis of the tumors.
Possibly, so do TSPY and SCF. Estimated prevalence of germ cell tumors varies among DSD subgroups.
It ranges from 0.8 % in complete androgen insensitivity, through 30 % in gonadal dysgenesis in common, to 60 % in Frasier syndrome. Therefore, the current management guidelines still propose prophylactic gonadectomy as a first choice in most of the cases.