914 Edited1.pdf 909Vol. 10 | No. 2 | Spring 2013 |U R O LO G Y J O U R N A L Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia Rare Presentation of Inguinal Hernia Ashish Gupta,1 Nilanjan Panda,1 Makhan Lal Saha,2 Shuvro Ganguly,2 Samik Kumar Bandyopadhyay,1 Ruchira Das3 Keywords: persistent Mullerian duct syndrome, testis, male pseudohermaphroditism INTRODUCTION Persistent Mullerian duct syndrome (PMDS) is a rare type of pseudohermaphroditism in genotypically and phenotypically males. They have a uterus, fallopian tubes, and upper part of the vagina; but Mullerian duct fails to regress. In transverse testicular ectopia (TTE), one of the testis moves to the opposite side and both testes pass the same in- guinal canal. We report a case of PMDS with TTE presented with a left-sided inguinal hernia and right undescended testis. CASE REPORT A 23-year-old man presented with a left-sided reducible inguinal hernia and undescended tes- tis in an empty ill-developed right hemiscrotum. Left scrotum revealed two separate contents, a small 3 × 2 cm oval structure (clinically testis) and another larger structure (clinically the hernia sac with its content) (Figure 1). On taxis, the sac and the left testis both reduced into the abdomen together. Ultrasonography revealed left-sided normal testis, bulky left epididymis, thickened spermatic cord, and a heterogeneous mass 2.8 × 1.7 × 1.7 mm with minimal vascularity. Partial hernia- tion of the small bowel loops was seen through the internal ring on the left side. Right-sided Corresponding Author: Nilanjan Panda, MS; MRCS Ed; DNB 318 b, CIT Road, Scheme 6M, Kankurgachi, Kolkata 700054, West Bengal, India Tel: +91 974 877 4942 E-mail: drnilanjanpanda2002@ yahoo.co.in Received April 2011 Accepted July 2011 1 Department of Surgery, R.G KAR Medical College, Kolkata, India 2 Department of Surgery, IPGMER and SSKM, Kolkata, India 3 Department of Surgery, B.S Medi- cal College, Bankura, India CASE REPORT 910 | testis was not seen either in the scrotal sac, inguinal canal, or in any other possible ectopic sites. In semen analysis, volume was 2 mL and there were no spermatozoa. Serum testosterone level was 862.20 ng/dL (normal range, 280 to 800 ng/dL). Karyotyping showed male XY pattern. On diagnostic laparoscopy, well-developed uterus, round ligament, fallopian tubes, and the left testis were seen. The left testis was entering the left internal inguinal ring and the right testis migrated to left and was in the left internal inguinal ring. We reduced the hernia and took a biopsy from the right testis to prove TTE (Figure 2). The histopathology revealed seminiferous tubules containing Sertoli cell with no germ cells. The patient was counseled and re-explored. Total hyster- ectomy with bilateral salpingectomy followed by bilateral orchidopexy and repair of left-sided hernia were performed (proliferative phase), fallopian tube, and vaginal tissue. DISCUSSION until now.(1) Mullerian inhibiting substance (MIS), secreted by the Sertoli cells from seven weeks of gestation, causes the regression of the Mullerian duct in the male fetus.(2) In PMDS, there is presence of Mullerian derivatives, ie, the uterus, fallopian tube, and upper part of the vagina in other- wise normally virilized XY male. It results from a failure or mistiming in the synthesis and release, or end organ resist- ance to MIS.(3) The subjects have normal levels of testos- terone with normal male secondary sexual characters. The a normal male pattern. More than 100 cases of TTE have been reported; how- ever, the presence of PMDS and TTE together is rare. Per- sistent Mullerian duct syndrome is mostly found out during surgery for inguinal hernia or cryptorchidism. Transverse patient. Persistent Mullerian duct syndrome has two clinical vari- ants. Commoner is unilateral cryptorchidism and contralat- eral inguinal hernia. The term “hernia uteri inguinalis” is used when the uterus is found in the hernia sac. Sometimes the contralateral testis is found in the sac due to the abnor- mal mobility of the Mullerian derivatives, known as TTE. (6) In another variant, bilateral cryptorchidism is seen with the uterus in the pelvis and the testis embedded in the broad ligament. The undescended testes are at increased risk for malignant transformations into seminoma, embryonal carcinoma, yolk sac tumors, and rarely clear cell adenocarcinoma of the Mullerian duct in PMDS.(7) Infertility is common with Figure 1. Showing normal penis with inguinal hernia on the left side and empty right scrotum. Figure 2. Laparoscopic view showing the right and left gonads with the uterus in between them. Case Report 911Vol. 10 | No. 2 | Spring 2013 |U R O LO G Y J O U R N A L Transverse Testicular Ectopia | Gupta et al absence of spermatozoa in semen analysis. Surgical management is done in stages. Diagnostic laparos- biopsy and karyotyping are available; it aims at preserv- ing the testes. Orchidopexy and hysterectomy are done after dissecting the vas deferens from the Mullerian structures. Orchidectomy is indicated if the testis cannot be brought to the scrotum. Orchidectomy should be followed by a lifelong testosterone supplement. Patients with PMDS and TTE are usually infertile. Orchidopexy should be done to prevent malignancy. CONFLICT OF INTEREST None declared. REFERENCES 1. Acikalin M, Pasaoglu O, Tokar B, Ilgici D, Ilhan H. Persis- tent Mullerian duct syndrome with transverse testicular ectopia: a case report with literature review. Turk J Med Sci. 2004;34:333-6. 2. Gujar NN, Choudhari RK, Choudhari GR, et al. Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. J Med Case Rep. 2011;5:586. 3. Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Mullerian duct syndrome. Hum Reprod Update. 2005;11:351-6. Figure 3. Operative picture showing the uterus with both the testes and normally developed penis. 4. Mouli K, McCarthy P, Ray P, Ray V, Rosenthal IM. Persistent mullerian duct syndrome in a man with transverse testicu- lar ectopia. J Urol. 1988;139:373-5. 5. Fourcroy JL, Belman AB. Transverse testicular ectopia with persistent Mullerian duct. Urology. 1982;19:536-8. 6. Karnak I, Tanyel FC, Akcoren Z, Hicsonmez A. Transverse testicular ectopia with persistent mullerian duct syndrome. J Pediatr Surg. 1997;32:1362-4. 7. Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adeno- carcinoma of the mullerian duct in persistent mullerian duct syndrome: the first reported case? Am J Surg Pathol. 2002;26:1231-4.