| Abstract|| |
Urinary symptoms have been described secondary to a pelvic mass originating from the ovary, uterus, cervix, prostate, or rectum. Persistent Mullerian duct syndrome is a rare form of intersex disorder, characterized by the presence of uterus and fallopian tubes in an otherwise 46 XY male. We report an adult male with bilateral cryptorchidism and a pelvic mass, who presented with acute urinary retention, and was diagnosed with a seminoma of the right testis, intratubular germ cell neoplasia of the left testis with the presence of Mullerian remnants. Pelvic mass was caused due to seminoma is a rare cause of urinary retention.
Keywords: Cryptorchidism, male pseudohermaphroditism, persistent Mullerian duct syndrome, seminoma, urinary retention
|How to cite this article:|
Modi J, Modi D, Bachani L. Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. Indian J Pathol Microbiol 2015;58:83-5
|How to cite this URL:|
Modi J, Modi D, Bachani L. Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. Indian J Pathol Microbiol [serial online] 2015 [cited 2020 Jan 28];58:83-5. Available from: http://www.ijpmonline.org/text.asp?2015/58/1/83/151196
| Introduction|| |
Persistent Mullerian duct syndrome (PMDS) is a rare form of intersex disorder, which is characterized by failure of regression of the Mullerian duct, structures like the uterus and Fallopian tube More Detailss in an otherwise normal male.  Individuals with PMDS are genetically 46 XY, without any chromosomal abnormalities. , Pelvic masses have been described as an uncommon cause of urinary bladder symptoms and compression causing urinary retention. Here, we report a case of a large seminoma arising in a right undescended testis, causing acute urinary retention in a patient with PMDS.
| Case Report|| |
A 42-year-old male was referred to the urology clinic with an indwelling Foley catheter, for further management. He gave a history of lower urinary tract symptoms, for the last 2 months and had developed painful urinary retention 3 days ago, for which catheterization had been performed with an immediate urine output of 700 ml. The patient is married with one child. Physical examination revealed a palpable mass in the lower abdomen; the scrotum was empty, and he had a normal sized phallus. Testes were not palpable in the inguinal region, bilaterally. On rectal examination, the prostate was firm and normal in size. His blood biochemistries were as follows: Hemoglobin 10.3 g/dl and serum creatinine 1.4 mg/dl. The ultrasound study and a computed tomography scan showed a heterogeneous irregular intra pelvic mass, more on the right side, measuring about 15 cm × 9 cm × 5 cm. There was no evidence of any enlarged lymph nodes in the abdomen and pelvis. Chest X-ray and serum levels of tumor markers alpha-fetoprotein, beta human chorionic gonadotropin, and lactate dehydrogenase were normal (S0).
On exploration, a mass was seen adherent to the posterior bladder wall. The mass was dissected in total. Gross pathological examination revealed a well-developed uterus and a portion of cervix measuring 7 cm × 3.5 cm × 2.5 cm with attached left testis 4.5 cm × 2.5 cm × 1.8 cm in size and presence of a spermatic cord [[Figure 1]a]. The right testis measuring 11 cm × 7 cm × 6 cm size had a cut surface which was circumscribed, homogenous, lobulated, and yellow-tan in color, without any necrosis or hemorrhage [[Figure 1]b]. Histopathological examination revealed a seminoma arising in the right undescended testis which was restricted to the testis. The spermatic cord was free of tumor. There was no evidence of lymphovascular invasion (pT1) [[Figure 1]c]. Intratubular germ cell neoplasia was detected in the left undescended testis which was confirmed by periodic acid-Schiff stain [[Figure 1]d]. The uterus had an atrophic endometrium with the presence of an ill-defined myometrium, and the endocervix was without any abnormality.
|Figure 1: (a) Gross photo of specimen, showing a bivalved uterus with attached cervix (b) gross appearance of seminoma arising from a right undescended testis. The cut surface of the mass is well circumscribed, lobulated, yellow tan, without any necrosis or hemorrhage (c) classic seminoma showing nests of tumor cells, separated by thin and thick fibrous septa and infiltrated by lymphocytes (H and E, ×100) (d) intra tubular germ cell neoplasia of left testis which shows abundant intracytoplasmic glycogen with periodic acid-Schiff stain positive (H and E, ×400)|
Click here to view
The postoperative course was uneventful. The catheter was removed on day 2 of surgery, and the patient was voiding with a good flow. He received four cycles of bleomycin, etoposide, and platinum. A karyotype study showed 46 XY. On 6 months follow-up the patient is asymptomatic without recurrence of seminoma.
| Discussion|| |
Urinary symptoms have been described secondary to pelvic masses originating from ovary, uterus, cervix, prostate or rectum.  Urinary retention secondary to seminoma of the cryptorchid testis has not been described. We did a comprehensive search of the literature and came across a single case report of urinary retention following extragonadal seminoma in the pelvic cavity.  Our case is rare due to the late presentation and urinary retention secondary to a large size seminoma associated with PMDS.
Persistent Mullerian duct syndrome is a rare type of male pseudohermaphroditism, with patient having normal testosterone production and male external genitalia. , After Nilson et al. described it in 1939,  approximately 150 cases of PMDS have been reported.  However, very few have described associated malignancies. The normal sex differentiation in 46 XY male fetuses is regulated by testosterone and Mullerian Inhibiting Factor (MIF). The gene for MIF has been localized to the short arm of chromosome 19. Failure in the production of MIF or inability of the target organ to respond to MIF, results in the persistence of Mullerian structures.  The secretion and response of target organs to testosterone are not affected, the wolffian duct structures and external genitalia progress to a normal male. The diagnosis of PMDS is often late and usually during the evaluation of inguinal hernia and undescended testis or very rarely it could be due to the symptoms secondary to malignant changes within the tumor. 
In the literature, two clinical variants of PMDS have been described. Unilateral cryptorchidism and contralateral inguinal hernia are the most common variant of PMDS. Sometimes, both the testes are located on one inguinal side, and this condition is referred to as transverse testicular ectopia.  In the rarer variant, as in our case, the patient may present with bilateral undescended testes where the uterus and fallopian tubes are in the pelvis, and both the testes are embedded in the broad ligament.
The differential diagnosis for PMDS is mixed gonadal dysgenesis, in which the Mullerian structures are present in association with ambiguous genitalia secondary to chromosomal mosaicism XO/XY  In contrast, PMDS is characterized by a normal 46 XY karyotype and normal masculinization of external genitalia. 
Infertility is usually common with PMDS. Few cases of fertility have been reported in the literature. The gonads of PMDS-affected individuals are at higher risk of malignant change, the risk is up to 15%.  Testicular malignancy associated with PMDS needs proper grossing, staging and treatment. During grossing, when the tumor appearance is variegated, selective sampling should be done from distinct areas such as hemorrhage, necrosis, or mucinous changes as these gross changes often correlate with important histological features of worse prognostic components which may behave more aggressively. However, we performed multiple random sampling of the tumor as its cut surface was circumscribed, homogenous, lobulated, and yellow-tan in color without any necrosis or hemorrhage.
In general, the staging of testicular tumor is done after histopathology report of orchiectomy specimen, radiological findings for the presence of retroperitoneal and other lymphadenopadhy along with serum level of tumor markers. The pathological stage of our case is pT1 Nx S0 as tumor was restricted to the testis without involvement of spermatic cord or pT1, radiological findings without retroperitoneal nodal enlargement (Nx) with normal serum level of tumor markers (S0).
After modern staging procedures, about 15-20% of stage I seminoma patients have subclinical metastatic disease, for which they need adjuvant radiotherapy or chemotherapy and long-term follow-up.  However, the cure rates are high in the stage I seminoma, which is about 98%. 
Seminoma is equally sensitivity to both radiotherapy and chemotherapy. Preoperative diagnosis can help for better planning of management; however, in our case, due to acute presentation, preoperative biopsy was not done. Farikullah et al., have described malignancy in Mullerian remnants. 
| Conclusion|| |
While dealing with the undescended testis and urinary symptoms, the clinicians and pathologists should be aware of the entity of PMDS. The risk of developing malignancy and other symptoms is higher in an intra-abdominal testis, and the removal of Mullerian remnants with undescended testis should be performed, especially in individuals presenting after puberty.
| References|| |
Gutte AA, Pendharkar PS, Sorte SZ. Transverse testicular ectopia associated with persistent Mullerian duct syndrome - The role of imaging. Br J Radiol 2008;81:e176-8.
Dekker HM, de Jong IJ, Sanders J, Wolf RF. Persistent Müllerian duct syndrome. Radiographics 2003;23:309-13.
Thompson ST, Grillis MA, Wolkoff LH, Katzin WE. Transverse testicular ectopia in a man with persistent Müllerian duct syndrome. Arch Pathol Lab Med 1994;118:752-5.
Nishimoto N, Kajikawa J, Miyoshi S, Iwao N, Mizutani S, Okuyama A. Urinary retention secondary to ovarian dysgerminoma in a girl. Urology 1985;26:71-3.
Kuno T, Shinohara T, Kasahara K, Matsuoka A, Komatsu Y, Naruse K, et al.
Extragonadal seminoma presenting as a large mass in the pelvic cavity without c-kit-activating mutations. Jpn J Clin Oncol 2012;42:650-3.
Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 2005;11:351-6.
Nilson O. Hernia uteri inguinalis beim Manne. Acta Chir Scand 1939;83:231.
Prakash N, Khurana A, Narula B. Persistent Müllerian duct syndrome. Indian J Pathol Microbiol 2009;52:546-8.
Martin EL, Bennett AH, Cromie WJ. Persistent Müllerian duct syndrome with transverse testicular ectopia and spermatogenesis. J Urol 1992;147:1615-7.
Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM. Surgical and genetic aspects of persistent Müllerian duct syndrome. J Pediatr Surg 1994;29:61-5.
Alexander EJ, White IM, Horwich A. Update on management of seminoma. Indian J Urol 2010;26:82-91.
Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S. Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Müllerian remnants. BJU Int 2012;110:E1084-9.
Dr. Jayesh Modi
2, Kamdhenu Apt., Behind St. Xaviers Loyolla Hall School, Memnagar, Ahmedabad - 380 052, Gujarat
Source of Support: None, Conflict of Interest: None