A Case Report on Persistent Mullerian Duct Syndrome

Persistent Mullerian duct syndrome (PMDS) is usually an accidental finding either during orchidopexy or during routine inguinal hernia repair in male patients presenting with undescended testes. It is a rare form of internal male pseudohermaphroditism caused by defect in synthesis or action of Mullerian inhibiting factor due to which Mullerian derivatives such as uterus, fallopian tube and upper vagina are normally present in 46XY males. PMDS has an autosomal recessive inheritance. Screening of the siblings is necessary. Familiarity of operating surgeon with this disease condition would increase the chances of correctly diagnosing the case. Distinguishing PMDS from other intersex disorder is critical. A karyotyping and assessment of testicular response to chorionic gonadotropin stimulation are essential to verify both genetic sex and existence of functional testicular tissue. Here we report a 7 year old male presenting with bilateral undescended testes.