An uncommon presentation of persistent Mullerian duct syndrome: A 27-year-old male with Transverse Testicular Ectopia

Persistent Mullerian duct syndrome is an exceptional genetic condition that occurs secondary to mutations in AMH and AMHR-II. The individuals with this condition exhibit well-developed secondary sexual characteristics despite having a uterus and fallopian tubes. The case mentioned here was worth reporting due to the scarcity of prevalence of PMDS. Secondarily, it is important that the patient had retained MD derivatives in his inguinal canal for 27 years without any malignant change. This case report features a 27-year-old male who presented with complaints of right-sided scrotal swelling for 3 years, an empty left scrotal pouch since birth, infertility, and off-and-on hematospermia. Clinical examination revealed a right-sided indirect, complete, reducible hernia and bilateral cryptorchidism. Investigations confirmed the presence of both testes in a right inguinal canal along with a partially developed uterus and fallopian tube. Hernioplasty and orchidopexy were done under spinal anesthesia. Remnants of MD were excised and sent for histopathology. PMDS is a rare genetic syndrome with a variety of clinical features. This unique presentation highlights the need for awareness of such rare causes of infertility, hematospermia, and malignancy. PMDS often goes unnoticed in childhood and early teenage resulting in drastic consequences. A well intricated multidisciplinary approach is required to identify and manage such exceptional conditions. •A 27-year-old male with prolonged inguinoscrotal swelling; case highlights PMDS diagnostic challenges and the need for better management.