Mixed gonadal dysgenesis associated with persistent Müllerian duct syndrome – a rare anomaly

摘要

Background: Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive inherited disorder. It is a type of internal male pseudo-hermaphroditism in which Müllerian duct derivatives persist in the phenotypically and karyotypically normal male. The exact incidence is unknown, but to date, approximately 400 cases have been reported. PMDS is caused either by insufficient amount of Müllerian inhibiting factor or insensitivity of the target organs to Müllerian inhibiting factor. The case presented in this report discusses mixed gonadal dysgenesis, a condition that 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 and a left inguinal hernia. On exploratory laparotomy, a uterus with bilateral adnexa was noted, and histopathology revealed the features of mixed gonadal dysgenesis associated with PMDS. The closest differential diagnosis for this condition is true hermaphroditism. Conclusion: PMDS is a rare disorder, and is important to diagnose this condition early because 30% of the cases progress to gonadoblastomas like dysgerminoma, yolk sac tumor, and embryonal carcinoma, and hence gonadectomy is necessary. The very rare nature of this condition and grave prognosis merits its reporting.