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Year : 2019  |  Volume : 62  |  Issue : 1  |  Page : 178-180
Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report

1 Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
2 Department of Urology, Kalinga Hospitals, Bhubaneswar, Odisha, India

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Date of Web Publication31-Jan-2019

How to cite this article:
Adhya AK, Pradhan MR. Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report. Indian J Pathol Microbiol 2019;62:178-80

How to cite this URL:
Adhya AK, Pradhan MR. Persistent mullerian duct syndrome with mixed germ cell tumor of undescended testis: A case report. Indian J Pathol Microbiol [serial online] 2019 [cited 2019 Oct 15];62:178-80. Available from: http://www.ijpmonline.org/text.asp?2019/62/1/178/251236


Persistent mullerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism characterized by the presence of mullerian duct derivatives in a phenotypically and genotypically male person.[1] These persons usually have unilateral or bilateral cryptorchidism with an increased risk of development of germ cell tumors. A total of 38 cases of PMDS have been reported from India, in which nine cases had gonadal germ cell tumors. Most were seminomas. Mixed germ cell tumor has been reported only in two cases.[2],[3] We describe an interesting case of PMDS with mixed germ cell tumor of the undescended testis and review similar cases reported from India.

A 33-year-old male presented with abdominal pain and fever. General examination was normal. Physical examination revealed mild distention, pain, and an ill-defined mass in the lower abdomen. The left testis was palpable in the superficial inguinal pouch with hydrocele of the sac but the right testis was not found in the scrotal sac. Normal male external genitalia and secondary sexual characteristics were seen. Past history revealed that he was married since 9 years and suffering from primary infertility. CT scan of the whole abdomen showed a 12 × 10 × 9-cm-sized heterogeneously enhancing lobulated mass in the midline pelvis superior to the urinary bladder. The mass was contiguous with the thickened cord structures extending into the right inguino-scrotal region. The mass abuts a thick-walled encysted lesion close to the right seminal vesicle. Prostate was identifiable and normal in appearance. Rest other intra-abdominal organs were normal. USG showed absent testis in the right scrotal sac and normal left testis. Semen analysis revealed azoospermia. The abdomen was surgically opened by a lower abdominal incision extending over the umbilicus. Exploratory laparotomy revealed rudimentary uterus with fallopian tubes on both sides near the left inguinal ring and a large intraperitoneal mass. The mass was adherent to the sigmoid colon, appendix, and urinary bladder. The mass seemed to be arising from the right adnexal structures. The right adnexal structures were going deep down between the rectum and urinary bladder. The rudimentary uterus was excised along with both adnexa and the mass. The right inguinal ring was closed with prolene mesh. The appendix was removed as well and the abdomen closed. Gross examination of the specimen revealed uterus with cervix and the attached fallopian tubes on both sides. Portions of vas deferens were found along both sides of the uterus [Figure 1]a. The uterus measured 7 × 5 × 3 cm. There was a well-defined endometrial cavity. The endometrium was 1 mm and myometrium 1-cm thick. No ovary was found. The tumor was lying separately and measured 15 × 12 × 10 cm. Outer surface of the mass showed an intact capsule. The cut surface was heterogenous with solid to soft necrotic areas [Figure 1]b. Microscopy revealed a well-developed but inactive endometrium over a normal myometrium [Figure 2]a. Sections confirmed the presence of both fallopian tubes and cervix. The presence of epididymis and vas deferens were confirmed on microscopy [Figure 2]b, [Figure 2]c. However, no definite ovarian tissue was found. Sections from the tumor mass showed a mixed germ cell tumor comprising seminoma, yolk sac tumor, teratoma, and choriocarcinoma [Figure 2]f and [Figure 3]a, [Figure 3]b, [Figure 3]c. At the periphery of the tumor, atrophic seminiferous tubules were found indicating that the tumor arose from the undescended testis [Figure 2]d and [Figure 2]e. Immunohistochemistry for placental leucocyte alkaline phosphatase [PLAP], alpha fetoprotein [AFP], and beta human chorionic gonadotropin [beta HCG] confirmed the different components [Figure 3]d, [Figure 3]e, [Figure 3]f. Biochemical evaluation revealed serum estradiol: 143.8 pg/mL (normal <52 pg/mL), testosterone: 547 ng/dL (normal 241–827ng/dL), AFP: >1000 ng/mL (normal <8ng/mL), beta HCG: 5234 mIU/ml (normal <5 mIU/ml), and LDH 633 IU/ml (normal 230–890 IU/ml). Karyotyping revealed a normal 46XY genotype. The patient received chemotherapy (etoposide, bleomycin, and etoposide) and is disease free at 1-year follow-up.
Figure 1: Gross photographs, (a) Rudimentary uterus with cervix and one side adnexa. Vas deferens is seen on either side of the uterus (arrows). (b) Gross photo of the tumor. The tumor is well capsulated and the cut surface is variegated

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Figure 2: Microscopic findings, H and E stain: (a) inactive but well developed endometrium and myometrium, x400. (b) fallopian tube and epididymis present close to each other, x100. (c) Vas deferens, 200x. (d) atrophic seminiferous tubules of the testis found at the periphery of the tumor, x400. (e) higher magnification of atrophic seminiferous tubules, 400x. (f) cartilage, teratoma component of the tumor, x400

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Figure 3: Microscopic and Immunohistochemistry features of the tumor, seminoma component (a) and corresponding area showing PLAP positivity on IHC (d), yolk sac tumor component (b) and corresponding positivity for AFP on IHC (e), choriocarcinoma component (c) with corresponding positivity for beta HCG on IHC (f)

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PMDS is a rare disease and only about 160 cases are reported in world literature. The cause for persistence of the mullerian duct remnants is presumed to be a deficiency of anti-Mullerian hormone (AMH) or a defect in the AMH receptor.[1] Most patients are incidentally found to have female internal genital organs during investigation for either undescended testis or hernia or tumors arising from the undescended testis. There is an increased risk of development of germ cell tumors in these patients due to the presence of undescended testis. Most tumors arising in these cases have been pure seminomas. The presence of a mixed germ cell tumor has been reported only five times in world literature. A total of nine cases of PMDS with testicular tumor has been reported from India. Six of them had pure seminomas. Two cases of mixed germ cell tumor have been reported. They had a combination: yolk sac tumor with seminoma,[2] yolk sac tumor with embryonal carcinoma and teratoma.[3] In our case, we found a mixed germ cell tumor comprising seminoma, teratoma, yolk sac tumor, and choriocarcinoma, which is unlike the previously reported cases. The serum tumor markers AFP and beta HCG were markedly elevated, corroborating with the histopathological findings.

Most patients reported in literature were infertile; however, a few cases had children.[2],[3],[4] The patient in this study was infertile. The vas deferens was adherent along the lateral borders of the uterus and fallopian tube and was removed along with the uterus during surgery. Similar occurrence has been documented by others as well. Awareness of this fact is essential for surgeons to preserve the male ejaculatory structures to preserve fertility.

Surgical removal of the vestigial uterus and fallopian tubes is strongly recommended as there has been reports of adenocarcinoma developing in these Mullerian duct remnants.[5] The undescended testis must be removed as there is a markedly increased risk of development of germ cell tumors. However, as the vas-deferens runs very close and adherent to the walls of the uterus, it is very difficult to remove the uterus with appendages without damaging these structures.

In conclusion, patients having unilateral or bilateral undescended testis if associated with hernia or infertility must be thoroughly investigated by abdominal and pelvic radiology. Awareness of the syndrome of persistent Mullerian duct remnants is crucial for both radiologists and surgeons for early detection and management to avoid development of malignancy.

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There are no conflicts of interest.

   References Top

Belville C, Josso N, Picard JY. Persistence of Müllerian derivatives in males. Am J Med Genet 1999;89:218-23.  Back to cited text no. 1
Mohapatra M, Subramanya YS. Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis. Indian J Pathol Microbiol 2016;59:212-5.  Back to cited text no. 2
[PUBMED]  [Full text]  
Jaka RC, Shankar M. Hernia uterine inguinale with transverse testicular ectopia and mixed germ cell tumor. Indian J Urol 2007;23:75-6.  Back to cited text no. 3
[PUBMED]  [Full text]  
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.  Back to cited text no. 4
[PUBMED]  [Full text]  
Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the mullerian duct in persistent mullerian duct syndrome: The first reported case. Am J Surg pathol 2002;26:1231-4.  Back to cited text no. 5

Correspondence Address:
Amit K Adhya
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_167_18

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