Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity.
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.
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
AV
Vanikar
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.
Lovelesh A
LA
Nigam
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.
Rashmi D
RD
Patel
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.
Kamal V
KV
Kanodia
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.
Kamlesh S
KS
Suthar
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.
Umang G
UG
Thakkar
Anti-mullerian substance; Cryptorchidism; Disorder of sex development; Mullerian duct remnants; Testosterone