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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 52  |  Issue : 4  |  Page : 546-548
Persistent müllerian duct syndrome


Department of Pathology, Rajiv Gandhi Cancer Institute and Research Centre, Rohini, Delhi-110 085, India

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Date of Web Publication1-Oct-2009
 

   Abstract 

Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by the presence of the Mόllerian duct structures in an otherwise phenotypically as well as genotypically normal male. We report a case of 40-year-old cryptorchid male who was clinically diagnosed as seminoma in the undescended abdominal testis. A diagnosis of PMDS was made on histological evaluation subsequent to abdominal orchidectomy.

Keywords: Cryptorchidism, Müllerian inhibiting factor, persistent Mόllerian duct syndrome

How to cite this article:
Prakash N, Khurana A, Narula B. Persistent müllerian duct syndrome. Indian J Pathol Microbiol 2009;52:546-8

How to cite this URL:
Prakash N, Khurana A, Narula B. Persistent müllerian duct syndrome. Indian J Pathol Microbiol [serial online] 2009 [cited 2014 Apr 23];52:546-8. Available from: http://www.ijpmonline.org/text.asp?2009/52/4/546/56160



   Introduction Top


Persistent Mullerian duct syndrome (PMDS) refers to a form of internal male pseudohermaphroditism characterized by the presence of Mullerian duct derivatives (uterus,  Fallopian tube More Detailss, upper part of vagina) in an otherwise normal male. The PMDS patients have unilateral or bilateral cryptorchidism and are assigned to the male sex at birth without hesitation. They are genetically 46 XY, with a normal male phenotype, no chromosomal abnormalities and, normal testosterone production and responsiveness. [1] PMDS is thought to result from the failure of synthesis or release of Mullerian inhibiting factor (MIF), the failure of end-organ to respond to MIF, or a defect in the timing of the release of MIF. [2]


   Case Report Top


A 40-year-old male presented with complaint of pain in the suprapubic region of one year duration. He had no associated urinary symptoms. Further details revealed left-sided undescended testis since birth. The patient was married and father of two children. A clinical examination of groin showed empty left scrotum with normal right testis and a normal phallus. An ultrasonographic examination revealed a multiseptate, anechoeic cystic mass measuring 9.9 X 6 cm, localized to the left side of the pelvis, adjacent to the urinary bladder [Figure 1]. A clinical suspicion of seminoma in the undescended abdominal testis was raised. The serum levels of tumor markers, namely, alpha feto-protein, beta human chorionic gonadotropin and lactate dehydrogenase, were normal. The patient was planned, prepared and taken for laparoscopic surgery. Peroperative findings showed a large cystic mass attached to the bladder and sigmoid mesocolon. The laparoscopic dissection could not separate the mass from the urinary bladder due to its adhesions and restricted mobility; so the procedure was converted into an open laparotomy. An abdominal orchidectomy was done and the specimen was sent to our department.

The gross examination showed a predominantly cystic mass measuring 9 X 8 X 3 cm along with a solid grey-white area measuring 3.5 X 3.5 X 3 cm [Figure 2]. Cut section revealed multiloculated structure filled with altered blood with adjacent solid area having slit-like spaces. Microscopic evaluation of the solid nodule showed unremarkable endometrial glands embedded in a compact stroma with adjoining normal myometrial tissue [Figure 3]. Also identified was the endocervical lining with underlying stroma [Figure 4]. Multiple sections from the cystic mass showed fallopian tube mucosa composed of numerous delicate plical folds [Figure 5]. Neither malignancy nor testicular parenchyma was identified in any of the sections submitted.


   Discussion Top


PMDS is a rare form of internal male pseudohermaphroditism characterized by the presence of the Mullerian duct structures in a phenotypically and genotypically normal male individual. The affected individual is otherwise normally virilized, with normal testosterone production, and male external genitalia. [2] PMDS was first described by Nilson in 1939, as quoted by Acikalin et al. [3] Subsequently, approximately 150 cases have been reported. A familial association has been found in some cases. [3]

The exact cause of PMDS is not known; however, it is thought to result from the defects of the synthesis or release of MIF or from the MIF receptor defect. The MIF gene has been localized to the short arm of Chromosome 19. MIF, released by the  Sertoli cells More Details of the fetal testis from seven weeks gestation onwards, is responsible for the regression of the Müllerian duct in the male fetus. A defect of the MIF gene leads to the persistence of the uterus and the fallopian tube in the male. It is likely that these remnant Müllerian structures produce cryptorchidism by hindering the normal testicular descent mechanism. [2]

Two clinical variants of PMDS are encountered. The more common variant of PMDS is characterized by unilateral cryptorchidism and contralateral inguinal hernia. When in such patients the uterus is present in the hernial sac, the condition is referred to as hernia uteri inguinalis. In transverse testicular ectopia, both the testes are located on one inguinal side and the opposite inguinal canal and scrotum are empty. In the rarer variant, patients may present with bilateral cryptorchidism where the uterus is in the pelvis and both the testes are embedded in the broad ligament. In the PMDS-affected individuals, the testis is usually histologically normal, apart from the spectrum of lesions due to longstanding cryptorchidism. [1],[3],[4]

Like other undescended testes, the gonads of these patients are at increased risk of malignant transformation. There have been case reports of embryonal carcinoma, seminoma, yolk sac tumor and teratoma in patients of PMDS. [3] The overall incidence of malignant change has been found to be 15%. [1] In our case, neither testicular tissue nor any malignancy was identified in the multiple sections from the mass removed.

Infertility is common with absence of spermatozoa seen at semen analysis. There have been a few reported cases of fertility, although absolute proof of paternity was not established. The indexed case is father of two children; however, chromosomal analysis or DNA studies were not done.

The main therapeutic considerations are the potential for fertility and prevention of malignant change. Surgical management is geared towards preserving fertility and orchipexy is done to retrieve the testis and position it in the scrotum. During the surgery, the uterus is usually removed and attempts are made to dissect away Müllerian tissue from the vas deferens in order to preserve fertility. Orchidectomy is only indicated for testis that cannot be mobilized to a palpable position. Testosterone replacement is required by those undergoing orchidectomy or by those with low levels of testosterone. The patient and his family must be informed about the diagnosis, the associated complications and the surgical options. Genetic counseling must be offered to them because of the possible chromosomal origin of the syndrome. In our case, the patient had already completed his family. As the testicular tissue was not identified in any of the sections studied, it warrants a search for the cryptorchid testis for orchidectomy to prevent a possible neoplastic change.

In conclusion, the clinicians and the pathologists should be aware of the entity of PMDS while dealing with the cryptorchid patients. This is necessary to reduce and foresee complications like infertility and neoplastic transformation.

 
   References Top

1.Dekker HM, de Jong IJ, Sanders J, Wolf RF. Persistent Mόllerian Duct Syndrome. Radiographics 2003;23:309-13.  Back to cited text no. 1      
2.Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent mόllerian duct syndrome. Hum Reprod Update 2005;11:351-6.  Back to cited text no. 2      
3.Acikalin MF, Pasaoglu O, Tokar B, Ilgici D, Ilhan H. Persistent Mόllerian Duct Syndrome with Transverse Testicular Ectopia: A Case Report with Literature Review. Turk J Med Sci 2004;34:333-6.  Back to cited text no. 3      
4.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. 4  [PUBMED]  Medknow Journal  

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Correspondence Address:
Anuj Khurana
98 SFS Flats Phase-4 Ashok Vihar, Delhi-110 052
India
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DOI: 10.4103/0377-4929.56160

PMID: 19805969

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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

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