Germ Cell Tumors Revealing a Familial Persistent Müllerian Duct Syndrome.

Persistent Mullerian duct syndrome (PMDS) is a congenital disorder related to male sexual development. PMDS is usually diagnosed during an inguinal hernia cure. The diagnosis of PMDS following a testicular germ cell tumor is less common. We report the cases of three infertile male patients who were diagnosed with PMDS after surgery for germ cell tumors. They were 39, 27, and 37 years old men with a medical history of neglected cryptorchidism. All patients had a male karyotype and the ELISA test for the anti-Mullerian hormone was undetectable. Patients underwent chemotherapy followed by resection of residual mass in one patient. One patient is currently alive and disease-free. The two other patients died of systemic relapse. These cases highlight how early recognition and treatment of PMDS can prevent malignant germ cell tumors. The diagnosis of PMDS relies on a systemic assessment and analysis of mutations in the gene coding for AMH and AMHR-II. Key words: Persistent Müllerian duct syndrome (PMDS), anti mullerian hormone, germ cell neoplasm.