Case Report
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 16, 2016; 4(6): 151-154
Published online Jun 16, 2016. doi: 10.12998/wjcc.v4.i6.151
Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity
Aruna V Vanikar, Lovelesh A Nigam, Rashmi D Patel, Kamal V Kanodia, Kamlesh S Suthar, Umang G Thakkar
Aruna V Vanikar, Lovelesh A Nigam, Rashmi D Patel, Kamal V Kanodia, Kamlesh S Suthar, Department of Pathology, Lab Medicine, Transfusion Services and Immunohematology, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre-Dr. H.L. Trivedi Institute of Transplantation Sciences, Gujarat University of Transplantation Sciences, Civil Hospital Campus, Asarwa, Ahmedabad 380016, Gujarat, India
Aruna V Vanikar, Lovelesh A Nigam, Rashmi D Patel, Kamal V Kanodia, Kamlesh S Suthar, Umang G Thakkar, Department of Cell Therapy and Regenerative Medicine, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre-Dr. H.L. Trivedi Institute of Transplantation Sciences, Gujarat University of Transplantation Sciences, Civil Hospital Campus, Asarwa, Ahmedabad 380016, Gujarat, India
Author contributions: Vanikar AV designed the report, edited and finalized the manuscript; Nigam LA collected patient’s clinical data and; all the authors were involved in histopathological reporting and drafting of the manuscript.
Institutional review board statement: This case report was exempt from the Institutional Review Board standards at G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre-Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Gujarat University of Transplantation Sciences (GUTS).
Informed consent statement: The written informed consent was obtained from the parents of the patient for authorizing use and disclosure of his protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Aruna V Vanikar, MD, PhD, Professor and Head, Department of Pathology, Lab Medicine, Transfusion Services and Immunohematology and Department of Cell Therapy and Regenerative Medicine, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre-Dr. H.L. Trivedi Institute of Transplantation Sciences, Gujarat University of Transplantation Sciences, Civil Hospital Campus, Asarwa, Ahmedabad 380016, Gujarat, India. vanikararuna@yahoo.com
Telephone: +91-79-22687387 Fax: +91-79-22685454
Received: February 26, 2016
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
Abstract

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.

Keywords: Mullerian duct remnants, Anti-mullerian substance, Cryptorchidism, Testosterone, Disorder of sex development

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.