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 normally-virilized 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