Persistent Mullerian Duct Syndrome (Type 1) ? A Rare Anomaly

Background Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male Pseudo-Hermaphroditism in which Mullerian Duct derivatives persists in a phenotypically & karyotypically male patient. It was associated with Asymmetric Gonadal dysgenesis (AGD). The exact incidence is not known but till date around 400 cases have been reported. AGD refers to individuals who usually have a differentiated gonad on one side and a streak gonad or testis on the other side. Case summary A 27 year old male patient presented with cryptorchidism. On exploratory laparotomy uterus with bilateral adnexa were noted & Histopathology revealed features of AGD. The closest DD for AGD is True hermaphroditism. Conclusion Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is important to diagnosis this entity early because 30 % of cases progress to Gonadoblastomas. The very rare nature of this entity & grave prognosis merits its reporting.