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  Table of Contents    
CASE REPORT  
Year : 2016  |  Volume : 59  |  Issue : 2  |  Page : 212-215
Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis


1 Department of Pathology, GSL Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India
2 Department of Medical Oncology, GSL Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India

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Date of Web Publication9-May-2016
 

   Abstract 

Persistent Müllerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism characterized by retention of Müllerian duct derivatives in a phenotypically and karyotypically male patient. Deficiency of anti-Müllerian hormone (AMH) secretion or resistance to AMH action due to defective AMH-II receptor is presumed to cause such syndrome in the majority of cases. About 158 PMDS cases have been reported so far, out of which 31 cases are associated with testicular neoplasms. Herein, we describe an interesting case of young male initially diagnosed and treated for inguinal hernia, but finally diagnosed as “PMDS of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis” comprising components of seminoma and yolk sac tumor and treated successfully.

Keywords: Mixed germ cell tumor, persistent Müllerian duct syndrome, seminoma, yolk sac tumor

How to cite this article:
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

How to cite this URL:
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 [serial online] 2016 [cited 2019 Dec 10];59:212-5. Available from: http://www.ijpmonline.org/text.asp?2016/59/2/212/182036



   Introduction Top


Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by retention of Mullerian duct derivatives such as uterus, cervix, fallopian tubes, and the upper third of vagina in a phenotypically and karyotypically male patient.[1] Etiopathogenesis of such syndrome is presumed to be deficiency of anti-Müllerian hormone (AMH) secretion or resistance to AMH action due to defective AMH-II receptor in the majority of cases.[2] Since the first description of disease by Nilson in 1939, about 158 PMDS cases have been reported to date of which 31 cases have been reported as having associated testicular neoplasms.[1],[3],[4],[5],[6],[7] In this study, we depict the interesting story of an young male diagnosed as “PMDS of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis” comprising seminoma and yolk sac tumor.


   Case Report Top


A 26-year-old male, married with one female child presented to our hospital with complaints of the right lower abdominal swelling, pain with dragging sensation for 6 months. He had previous history of surgery for right inguinal hernia in outside the hospital. However, pain and swelling recurred 1 month following surgery; hence, approached another hospital where he was offered the diagnosis of metastatic germ cell tumor deposit in retroperitoneal lymph nodes based on ultrasonography (USG) guided fine needle aspiration cytology (FNAC). The case was referred to our cancer trust for further treatment. Abdominal USG revealed multiple well-circumscribed masses extending from xiphisternum to pelvis encasing the aorta and abutting the bladder. Contrast enhanced computerized tomography (CECT) of whole abdomen showed extensive enlarged lobulated/matted lymph nodes in retroperitoneum and pelvis with focal calcification which showed heterogeneous enhancement with multiple nonenhancing areas on contrast administration. Scrotal USG revealed the right testis at the root of scrotum near the right external inguinal ring, and the left testis was not visualized. Fine needle aspiration (FNA) was done from two nodular lumps felt in infraumbilical and left hypochondrium of abdomen measuring 6.0 cm × 5.0 cm and 4.0 cm × 3.0 cm, respectively. Aspirate cytosmears showed large round, polygonal tumor cells having indistinct cytoplasm, large pleomorphic nuclei with prominent nucleoli present over a tigroid background [Figure 1]a. FNA diagnosis was in favor of germ cell tumor deposit likely from seminoma of testis. Serum tumor markers study showed high level of lactate dehydrogenase (LDH)-2419IU/L (>10 × normal), alphafetoprotein (AFP) 159.5 ng/ml, and beta hCG level 214.1 mIU/L. The case was clinically diagnosed as mixed germ cell tumor of left hidden testis belonging to any T, N3, M0, S3, stage IIIc and categorized under poor risk group. He was treated with 4 cycles of chemotherapy consisting of bleomycin, etoposide and cisplastin following which the LDH level came to 332 U/L (<1.5 × normal), serum hCG, and AFP value became normal. Postchemo CECT imaging revealed residual mass measuring 10.7 cm × 4.6 cm in the central and lower abdomen. He was planned for retroperitoneal lymph node dissection, repair of inguinal hernia, localization of left hidden testis and tumor, and orchidectomy. Intraoperatively, a solid oval left testicular tumor measuring 12.0 cm × 10.0 cm × 4.0 cm was found in the left pelvis along with a soft tissue structure resembling uterus measuring 8.0 cm × 4.0 cm × 1.5 cm which was attached to prostatic utricle. Left testicular tumor and right testis along with fallopian tubes and cord-like structures were attached to the left and right corners of the uterus, respectively. He underwent complete excision of the left testicular tumor along with the uterus, both the fallopian tubes, right testis, retroperitoneal lymph nodes dissection, right herniorraphy, and appendicectomy as the tip of the appendix was inflamed. Gross examination showed a complex mass comprising rudimentary uterus measuring 8.0 cm × 6.0 cm × 1.5 cm with left testicular mass measuring 12.0 cm × 10.0 cm × 4.5 cm attached to the left corner along with vas deferens and fallopian tube like structure; right testis was attached to the right corner of uterus along with fallopian tube and cord-like structures [Figure 1]b. On cutting, left testis showed gray-white, solid, lobulated tumor with areas of hemorrhage, cystic change; right testis appeared atrophic [Figure 1]c and [Figure 1]d. Microsections from uterus showed thin endometrial cavity lined by single layer of cuboidal epithelial cells, underneath tissue showed few endometrial glands in scanty stroma and myometrium; at places, epithelium was lined by single layer of mucin-secreting columnar cells resembling cervical epithelium [Figure 2]a and [Figure 2]b. Microscopically, left testicular mass showed mostly necrotic tumor cells (chemotherapy induced) morphologically resembling seminoma cells arranged in lobules, nests separated by fibrovascular septa with focal area showing viable tumor cells [Figure 2]c and [Figure 2]d. Stroma showed dense lymphoplasmacytic infiltration with calcification [Figure 2]e. The right testis showed atrophic seminiferous tubules, majority lined by single layer of sertoli cells revealing focal Leydig cell hyperplasia [Figure 2]f. Attached tubes and cords on the left and right corners of uterus revealed normal histology of fallopian tubes and epididymis [Figure 2]g and [Figure 2]h. All the five retroperitoneal lymph nodes were negative for tumor. Considering all the findings, the case was finally diagnosed as “PMDS of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis.” He received two more courses of etoposide and cisplatin and kept on follow-up for once in 3 months. His last follow-up did not reveal any abnormality.
Figure 1: Fine needle aspiration cytosmears and gross features. (a) Fine needle aspiration cytosmears of abdominal lumps showing large round to polygonal tumor cells, pleomorphic nuclei, prominent nucleoli, and tigroid background (Leishman, ×400), (b) gross photograph of complex pelvic mass showing rudimentary uterus with attached left testicular tumor, right testis, tubes, and cords on the left and right corners of uterus, (c) cut section of left testicular tumor showing gray-white solid lobulated areas with haemorrhage and cystic change, (d) atrophic right testis

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Figure 2: Hematoxylin and eosin stained microscopic features. (a and b) Microphotographs of uterus (a) endometrial lining with underlying endometrial glands (b) focal cervical epithelial lining (×40 and ×400), (c-e) left testicular tumor (c) necrotic seminomatous cells, (d) occasional viable tumor cells and (e) lymphoplasmacytic infiltration with calcification (×100, ×400 and ×100), (f) right testis showing atrophic seminiferous tubules mostly lined by Sertoli cells (×100), (g and h) tubes, cords attached to the left and right corners of uterus showing structure of fallopian tube, epididymis, respectively (×40)

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   Discussion Top


PMDS is a disorder of male sexual differentiation where the patient shows internally testis as gonads along with variable degrees of feminization. In male, fetus during embryonic period, AMH secreted by sertoli cells acts on AMH-II receptors in perimesonephric (Müllerian) mesenchymal tissue leading to its regression by apoptotic degeneration. Partial or complete deficiency of AMH secretion due to mutation of AMH gene (type-I PMDS - 45%) or resistance to AMH action secondary to mutation of gene AMH-II receptor (type-II PMDS - 40%) lead to persistence of Müllerian derivatives in males. In rest 15% cases, the pathogenesis is enigmatic (idiopathic PMDS). These Müllerian structures are supposed to cause cryptorchidism by hindering normal testicular descent.[2] Since, PMDS does not affect the development of secondary sexual characters, these cases are usually detected incidentally during surgery for cryptorchidism or hernia repair as in our case.

Two anatomic variations of PMDS have been described - male and female forms. Male form is encountered in 80–90% of cases, characterized by unilateral cryptorchidism with contralateral inguinal hernia which is of two types. Type-I, hernia uteri inguinaliscomprises one side descended testis with herniation of ipsilateral corner of the uterus, fallopian tube into inguinal canal. Type-II, crossed testicular ectopia where both the testes, entire uterus, both the fallopian tubes herniate into one side inguinal canal and opposite inguinal canal, and scrotum are empty. Female form is seen in 10–20% cases that comprises bilateral cryptorchidism with the uterus in pelvis, both testes are embedded within broad ligament in ovarian position with respect to uterus.[5],[6] Our case presented in an unusual form having features of both male and female anatomical variants, as he had bilateral cryptorchidism (left intra-abdominal testis, right suprascrotal testis) along with right inguinal hernia. The risk of malignancy in PMDS cases is similar to that of undescended testis. Seminoma is the most commonly encountered testicular neoplasm associated with PMDS; there can also be embryonal carcinoma, yolk sac tumor, and teratoma.[1] The occurrence of mixed germ cell tumor in PMDS is rare. Extensive literature survey revealed only three cases of PMDS with mixed germ cell tumor of testis. Manassero et al.[8] described a case of mixed germ cell tumor of scrotal testis comprising teratoma and embryonal carcinoma. The other two cases had components of choriocarcinoma with teratoma [9] and embryonal carcinoma with yolk sac tumor and seminoma.[10] Our case revealed features of seminoma and yolk sac tumor as proved by FNAC and serum tumor markers. The mild increased level of serum beta-hCG was probably due to seminoma as nearly 15–20% of seminoma patients have elevated level of beta-hCG. PMDS patients can also have tumors of Müllerian duct derivatives such as uterine leiomyoma.[7]

Though infertility is common with azoospermia in PMDS patients, this patient has a female child. However, neither seminal analysis nor karyotyping was done in this case. The patient showed good partial response to neoadjuvant chemotherapy and did not reveal any abnormality in postoperative follow-up. Currently, he has been planned for serum testosterone estimation and androgen replacement therapy.


   Conclusion Top


While dealing with cases of unilateral or bilateral cryptorchidism associated with inguinal hernia, the clinicians and the radiologists should consider the possibility of PMDS. Awareness and familiarity with the clinical and imaging findings of PMDS can expedite the preoperative diagnosis help in adequate planning for appropriate surgery, which in turn will reduce unnecessary damage to fertile testis, vasa deferentia, and also foresee complications such as infertility and neoplastic transformation.

Acknowledgment

The authors are thankful to Dr. S. K. Nayak, Professor of Surgery and Dr. R. Rayidu Senior resident, Department of Radiology for their help.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Renu D, Rao BG, Ranganath K, Namitha. Persistent mullerian duct syndrome. Indian J Radiol Imaging 2010;20:72-4.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.
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.  Back to cited text no. 2
    
3.
Rehman A, Hasan Z, Amanat S, Shaukat T, Saeed A, Jamil K, et al. Combined persistent mullerian duct syndrome, transverse testicular ectopia and mosaic klinefelter's syndrome. J Coll Physicians Surg Pak 2008;18:375-7.  Back to cited text no. 3
    
4.
Prakash N, Khurana A, Narula B. Persistent müllerian duct syndrome. Indian J Pathol Microbiol 2009;52:546-8.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
5.
Gujar NN, Choudhari RK, Choudhari GR, Bagali NM, Mane HS, Awati JS, 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.  Back to cited text no. 5
    
6.
Patil V, Muktinaini S, Patil R, Verma A. Persistent müllerian duct syndrome: A case report. Indian J Surg 2013;75 Suppl 1:460-2.  Back to cited text no. 6
    
7.
Kovachev SM, Nikolov SD, Mihova AP. Uterine leiomyoma in a man with persistent müllerian duct syndrome and seminoma. Isr Med Assoc J 2014;16:735-7.  Back to cited text no. 7
    
8.
Manassero F, Cuttano MG, Morelli G, Salinitri G, Spurio M, Selli C. Mixed germ cell tumor after bilateral orchidopexy in persistent Müllerian Duct syndrome with transverse testicular ectopia. Urol Int 2004;73:81-3.  Back to cited text no. 8
    
9.
Giri SK, Berney D, O'Driscoll J, Drumm J, Flood HD, Gupta RK. Choriocarcinoma with teratoma arising from an intra-abdominal testis in patient with persistent Müllerian Duct syndrome. Lancet Oncol 2004;5:451-2.  Back to cited text no. 9
    
10.
Onur MR, Poyraz AK, Kocakoc E, Orhan I. Persistent müllerian duct syndrome with testicular malignancy and unilateral seminal vesicle agenesis. Eur J Radiol Extra 2011;77:e71-e73.  Back to cited text no. 10
    

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Correspondence Address:
Manisha Mohapatra
Department of Pathology, GSL Medical College and General Hospital, NH - 16, Lakshmipuram, Rajahmundry - 533 296, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.182036

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    Figures

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