PERSISTENT MULLERIAN DUCT SYNDROME: A CASE REPORT

CORRESPONDING AUTHOR:
Dr. Siddalingeshwar,
# 15, Sangameshwar Nilaya,
Behind Vaatsalya Hospital Sedam Road,
Gulbarga.
Email: siddu.swamy.99@gmail.com

ABSTRACT: A 3-year-old boy presenting with right inguinal hernia was found to have uterus, fallopian tube and testes in a position analogous to ovaries in hernial sac, warranting a diagnosis of persistent Mullerian duct syndrome (PMDS). PMDS is an extremely rare form of internal male pseudo-hermaphroditism in which female internal sex organs, including the uterus, cervix and proximal vagina, persist in a 46XY male with normal external genitalia. The condition results from a congenital insensitivity to anti-Mullerian hormone, or lack of anti-Mullerian hormone, leading to persistence of the female internal sex organs in a male. Clinically, this condition is associated with cryptochoridism. Controversy persists regarding the appropriate treatment of PMDS, since resection of the remnant structures is associated with potential morbidity, but retention risks development of occasional malignancies. We review the literature and discuss various aspects of pathophysiology, diagnosis, and management of PMDS.

KEYWORDS: Persistent Mullerian duct syndrome, Anti-Mullerian hormone, Mullerian inhibiting factor, Cryptorchidism.