A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia – Case report and review of literature

INTRODUCTION: Persistent Mullerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism. Transverse testicular ectopia (TTE) is characterized by one testis moving to the opposite side and both testes traversing the same inguinal canal. CASE PRESENTATION: An 11-month-old boy presented with bilateral cryptorchidism. The left testis was not palpable; the right testis was canalicular with a right inguinal hernia. Ultrasound showed both testes located in the right inguinal canal. Right inguinal exploration revealed two testes with intact spermatic cords. A primitive uterus with fallopian tubes was also identified on opening the processus vaginalis. After herniotomy, bilateral orchidopexy was carried out (left orchidopexy through a trans-septal approach). Karyotyping confirmed a male gender (46XY). One year after the operation, ultrasound showed both testes to be in good condition. DISCUSSION: PMDS is caused by defects in the gene that encodes Antimullerian hormone(AMH). Treatment aims to correct cryptorchidism and ensure appropriate scrotal placement of the testes. Malignant transformation is as likely as the presence of abdominal testes in an otherwise normal man. Failing early surgical correction, gonadectomy must be offered to prevent malignancy. Division of the persistent mullerian duct structures is indicated only in patients where persistence interferes with orchidopexy. CONCLUSION: TTE should be suspected in patients presenting with inguinal hernia on one side and cryptorchidism on the other side. Herniotomy and bilateral orchidopexy is optimal. Removal of mullerian structures may injure the artery to vas deferens and is hence not recommended. Follow-up for fertility assessment in the latter years should be counselled.