When the Müllerian ducts don’t regress: A case series on persistent Müllerian duct syndrome

Persistent Mullerian duct syndrome (PMDS) is a rare genetic condition affecting individuals with a 46, XY karyotype, where typical male external genitalia coexist with internal female reproductive structures such as the uterus and fallopian tubes. This anomaly results from dysfunction in anti-Müllerian hormone (AMH) or mutations in the AMH receptor, preventing the normal regression of Müllerian ducts during fetal development. In this report, we describe three cases of PMDS in patients who presented with infertility, absent testes, and azoospermia. Magnetic resonance imaging (MRI) played a key role in identifying Müllerian duct remnants and undescended testes, enabling accurate diagnosis. In the first case, a male variant with an inguinal hernia containing both testicular tissue and Müllerian remnants was found. The other two cases displayed characteristics of the female variant, including bilateral cryptorchidism and a midline uterus. Surgical management included the removal of Müllerian remnants, gonadectomy, and hormone replacement therapy. These findings emphasize the vital role of MRI in diagnosing PMDS, facilitating early intervention, and preventing complications such as malignancy.