Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome

Abstract

Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism, is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in otherwise normallyvirilized males (Karyotype 46XY). Patients suffering from PMDS present with cryptorchidism, inguinal hernia and infertility. Diagnosis is established when Mullerian duct structures are discovered either during ultrasonography for localization of undescended testis(s), during surgical exploration for cryptorchidism or herniorrhaphy (hernii uteri inguinalis). Presence of both testes on one side of the scrotum is known as Transverse Testicular Ectopia (TTE). Co-existence of PMDS and transverse testicular ectopia in a patient of mosaic Klinefelter's syndrome (Karyotype 46XY/47XXY) is a unique genetic association.