Published online Jun 16, 2016. doi: 10.12998/wjcc.v4.i6.151
Peer-review started: February 28, 2016
First decision: March 24, 2016
Revised: April 12, 2016
Accepted: May 7, 2016
Article in press: May 9, 2016
Published online: June 16, 2016
A rare entity of persistent mullerian duct syndrome usually presents with a common symptom of undescended testis (UDT) or hernia. Male pseudo-hermaphroditism with persistent internal mullerian duct structures can present with a 46, XY karyotype with normal external genitalia and. It arises due to deficiency of anti-mullerian substance, resulting from reduced production/responsiveness to mullerian duct, leading to persistence of mullerian duct along with normal development of Wolffian duct structures. Presence of mullerian structure prevents testicular descent increasing the risk of testicular vanishing syndrome. The authors here report a case of 16 years old phenotypical male who came with retractile right sided testis and left side UDT in the urology out-patient department. Explorative laparotomy was performed and an ill-defined mass was excised and sent for histopathological examination. Histopathology revealed presence of mullerian structures. The serum testosterone level was normal, buccal smear cytology and karyotyping revealed a 46, XY genotype of the patient.
Core tip: Undescended testis is a common cause of infertility. However persistence of mullerian structures in such a case is rare entity. This case highlights how early recognition of this entity can prevent vanishing testis syndrome and infertility.