[A testis tumor in the left adnexi]

Area of Science:

• Reproductive Endocrinology
• Urologic Oncology
• Medical Genetics

Background:

• Undescended testes (cryptorchidism) are a known risk factor for testicular germ cell tumors.
• Male pseudohermaphroditism encompasses conditions characterized by male gonads and ambiguous or female-appearing external genitalia.
• Persistent Müllerian duct syndrome (PMDS) is a rare intersex disorder where Müllerian structures persist in otherwise normal males.

Observation:

• A case report of a patient with a testicular tumor within an undescended testis.
• The patient presented with no apparent disturbances in virilization, indicating normal male development.
• A diagnosis of persistent Müllerian duct syndrome was identified in this patient.

Findings:

• The co-occurrence of testicular malignancy and cryptorchidism in a patient with persistent Müllerian duct syndrome.
• Persistent Müllerian duct syndrome can present without overt signs of virilization disturbances.
• Association between cryptorchidism, developmental anomalies, and persistent Müllerian duct syndrome.

Implications:

• Highlights the importance of considering intersex conditions like PMDS in patients with cryptorchidism and testicular tumors.
• Suggests that PMDS may be underdiagnosed in cases of cryptorchidism without apparent virilization issues.
• Underscores the need for comprehensive evaluation in patients with undescended testes and associated pathologies.