Germ Cell Tumors Revealing a Familial Persistent Müllerian Duct Syndrome

Area of Science:

• Reproductive Endocrinology
• Medical Genetics
• Oncology

Background:

• Persistent Mullerian duct syndrome (PMDS) is a rare congenital disorder affecting male sexual development.
• PMDS is typically diagnosed during inguinal hernia repair, but diagnosis following testicular germ cell tumors is uncommon.
• Cryptorchidism is a common predisposing factor for germ cell tumors and can be associated with PMDS.

Purpose of the Study:

• To report three cases of infertile males diagnosed with PMDS after treatment for germ cell tumors.
• To emphasize the association between PMDS, cryptorchidism, and germ cell tumors.
• To highlight the importance of early PMDS diagnosis for potentially preventing malignant transformation.

Main Methods:

• Case series of three infertile male patients diagnosed with PMDS.
• Review of medical history including neglected cryptorchidism.
• Diagnostic evaluation included karyotyping and anti-Mullerian hormone (AMH) ELISA.
• Treatment involved chemotherapy and, in one case, residual mass resection.

Main Results:

• All three patients presented with infertility and a history of neglected cryptorchidism.
• AMH levels were undetectable in all patients, consistent with PMDS.
• One patient achieved disease-free survival post-treatment; two patients died from systemic relapse.
• The study underscores a link between PMDS and germ cell neoplasm development.

Conclusions:

• Early diagnosis and management of PMDS are crucial for preventing the development of malignant germ cell tumors.
• Diagnosis of PMDS requires a comprehensive assessment, including genetic analysis of AMH and AMHR-II genes.
• This case series emphasizes the importance of considering PMDS in infertile males with cryptorchidism and germ cell tumors.