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Table of Contents
CASE REPORT
Year : 2022  |  Volume : 5  |  Issue : 2  |  Page : 91-94

Obstructed inguinal hernia in an adult male: A rare presentation of persistent Müllerian duct syndrome (internal male pseudohermaphroditism): A case report


1 Department of Surgery, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi, India
2 Department of Pathology, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi, India
3 Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi, India

Date of Submission12-Jul-2021
Date of Decision29-Aug-2021
Date of Acceptance15-Oct-2021
Date of Web Publication28-Apr-2022

Correspondence Address:
Dr. Sabina Khan
Department of Pathology, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi 110062
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJAWhs.ijawhs_47_21

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  Abstract 

Persistent Müllerian duct syndrome (PMDS) is an unusual form of internal male pseudohermaphroditism in which Müllerian duct derivatives are seen in phenotypically normal males, with 46, XY karyotype. PMDS is an outcome of defective functioning of the Müllerian inhibiting factor (MIF) or its receptor. MIF causes degeneration of the Müllerian duct in the fetus. PMDS clinically manifests as cryptorchidism or inguinal hernia, although it is mostly undetected until puberty. We report a rare case of PMDS in a 45-year-old male patient with right-sided cryptorchidism and contralateral inguinal hernia. Upon exploration of the hernial sac, it contained a uterus-like mass with attached left testis. Biopsy and subsequent histopathological examination of the mass confirmed the presence of endometrial glands.

Keywords: Inguinal hernia, Müllerian inhibiting factor, persistent Müllerian duct syndrome


How to cite this article:
Husain M, Khan S, Deshpande S, Yadav KS. Obstructed inguinal hernia in an adult male: A rare presentation of persistent Müllerian duct syndrome (internal male pseudohermaphroditism): A case report. Int J Abdom Wall Hernia Surg 2022;5:91-4

How to cite this URL:
Husain M, Khan S, Deshpande S, Yadav KS. Obstructed inguinal hernia in an adult male: A rare presentation of persistent Müllerian duct syndrome (internal male pseudohermaphroditism): A case report. Int J Abdom Wall Hernia Surg [serial online] 2022 [cited 2022 Jul 1];5:91-4. Available from: http://www.herniasurgeryjournal.org/text.asp?2022/5/2/91/344459




  Introduction Top


Persistent Müllerian duct syndrome (PMDS) is an uncommon form of internal male pseudohermaphroditism in which Müllerian duct derivatives are seen in a male. At least 250 cases of PMDS have surfaced in the medical literature so far.[1]

PMDS is an outcome of defective functioning of the Müllerian inhibiting factor (MIF) or its receptor.[2] Patients have undescended testes either on one or both sides. Newborns with this condition are unequivocally identified as males. Their testosterone production and responsiveness is within normal limits.[3]

Here we report a rare case of PMDS in a 45-year-old male patient who presented with features of obstructed inguinal hernia. Exploration of the hernial sac revealed a uterus-like mass with attached left testis, which was later confirmed to be uterine tissue by histopathological examination.


  Case Report Top


A 45-year-old male patient presented in the Surgery outpatient department with a left-sided inguinal swelling for the past 6 months. He developed pain at the swelling site, which became irreducible for the past 2 days. There was no history of vomiting, constipation, or distention of the abdomen.

The patient was well built with completely developed secondary sexual characteristics on general examination. He had a well-developed penis with an underdeveloped right hemi-scrotum. The right testis was neither palpable in the scrotum nor the inguinal canal.

There was a nonreducible, tense, tender swelling measuring approximately 15 cm × 12 cm in the left inguinal region. A cough impulse was absent. He had been married for 20 years and had two children.

No abnormality was detected in supplementary examinations and investigations. The patient was taken for surgery. Upon exploration, an indirect left inguinal hernia was discernible. The hernial sac contained omentum and a tube-like structure attached to the upper corner of a uterus-like mass, connecting it to the left testis [Figure 1].
Figure 1: Intraoperative findings showing testis, A, with uterus, B, and well-developed secondary sexual characteristics

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The incised uterus-like mass did not reveal any testicular tissue (seminiferous tubules) but had a tubular cavity. Since the patient was under general anesthesia, no consent was taken for any operative management. Thus, only a biopsy of the uterus-like mass was taken. After taking the biopsy, the uterus-like mass was placed back into the scrotum while the left testis remained in the scrotum. Further processing of this sample for histopathological examination displayed a cavity lined by endometrial glands and stroma [Figure 2].
Figure 2: Photomicrograph showing fibrocollagenous tissue with endometrial glands, A, and stroma (HandE stain, 40×)

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Primary tissue repair was performed as the patient was taken as an emergency surgery. No mesh was used. The patient recovered well and was planned for hysterectomy after the histopathological examination. However, follow-up was not possible as the patient absconded on the second postoperative day when the condition was explained to him and consent was requested for further investigations.


  Discussion Top


PMDS is a rare form of internal male pseudohermaphroditism resulting from defective functioning of MIF. Derivatives of the Müllerian duct (i.e.,  Fallopian tube More Detailss, uterus, and the upper part of the vagina) are present in a genotypically and phenotypically normal male.[3]

During embryogenesis, the Müllerian and Wolffian ducts coexist till 7 weeks of gestation. The medulla of undifferentiated gonads gives rise to testes in the presence of SRY gene (sex-determining region on Y chromosome). Testosterone and dihydrotestosterone (DHT), along with MIF, regulate the differentiation of male sexual organs. The Müllerian duct (paramesonephric duct) degenerates in response to MIF released by the  Sertoli cells More Details. Hence, the development of internal female genitalia is prevented.[4]

PMDS occurs due to lack of MIF or unresponsiveness of tissues to MIF (due to defect in MIF receptor). This leads to differentiation of Müllerian duct into internal female genitalia.[5] The normal testosterone-secreting Leydig cells induce differentiation of the Wolffian duct into internal male genitalia. DHT causes the appearance of normal male external genitalia. Thus, PMDS is characterized by presence of both male and female internal genitalia in a phenotypically and genotypically normal male.

Such patients have undescended testes either on one or both sides. Newborns are unequivocally identified as males. There are two anatomic variants of PMDS:

  • 1. Majority of the patients (up to 90%) present with unilateral cryptorchidism associated with contralateral inguinal hernia. This is the male variant, which is further classified as the following:
    • • Hernia uteri inguinalis, which is characterized by one descended testis and herniation of the ipsilateral corner of uterus and fallopian tube into the inguinal canal.


    • • Transverse testicular ectopia, which is characterized by herniation of both testes and the entire uterus with both fallopian tubes.[6]


  • 2. Minority of the patients (up to 10%) present with bilateral cryptorchidism, in which the testes are fixed within the round ligament in the ovarian position with respect to the uterus. This is the female form.


If mobile, the uterus and fallopian tubes descend into the inguinal canal along with the testes, whereas immobile Müllerian structures hinder the testicular descent.[3],[7]

PMDS can be diagnosed preoperatively or intraoperatively. Semen analysis shows oligospermia, a normal serum testosterone level (in adults) and ultrasound findings are indicative of the condition. However, this condition is more commonly diagnosed incidentally when the surgeon decides to perform a hernia repair surgery.

Surgeons should suspect PMDS as a differential diagnosis while operating on cryptorchid patients. This can reduce the incidence of complications like infertility and neoplastic proliferation.[8]

There are two primary goals of therapy: maintaining the scope of fertility and preventing neoplastic transformation. Surgical intervention involves hysterectomy and separation of other Müllerian structures from the vas deferens, which preserves fertility. Orchiopexy is done to reposition the testes.[9] If repositioning to a palpable location is not possible, only then orchidectomy is indicated. Exogenous testosterone is required in such patients to preserve virilization.

Abdominal localization of testes is associated with higher chances of malignant transformation as compared to inguinal localization. Patients with PMDS have been diagnosed with embryonal carcinoma, seminoma, yolk sac tumor, and teratoma, while tumors of the Müllerian structures are still relatively rare.[1]

Successful surgical intervention to correct cryptorchidism without damaging the testicular tissue can yield a good prognosis, but complications may arise due to proximity of Müllerian derivatives to the vas deferens.[10]

In our case, the patient had left descended testis and ipsilateral herniation of the uterus and fallopian tube along with right-sided cryptorchidism, suggestive of hernia uteri inguinalis (subtype of the male variant of PMDS).

In conclusion, identifying PMDS as a differential in cryptorchid patients is of paramount significance as it can prevent infertility and malignant transformation. Research in the areas exploring genetic component of PMDS can be helpful in early diagnosis of the condition. Risks and benefits of surgical interventions, including orchiopexy and orchidectomy, should be carefully weighed in order to preserve virilization.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understand that his name and initial will not be published, and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Acknowledgments

Nil.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Picard JY, Josso N Persistent Müllerian duct syndrome: An update. Reprod Fertil Dev 2019;31:1240-5.  Back to cited text no. 1
    
2.
Prakash N, Khurana A, Narula B Persistent Müllerian duct syndrome. Indian J Pathol Microbiol 2009;52:546-8.  Back to cited text no. 2
    
3.
Renu D, Rao BG, Ranganath K, Namitha . Persistent Müllerian duct syndrome. Indian J Radiol Imaging 2010;20:72-4.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Dekker HM, de Jong IJ, Sanders J, Wolf RF Persistent Müllerian duct syndrome. Radiographics 2003;23:309-13.  Back to cited text no. 4
    
5.
Patil V, Muktinaini S, Patil R, Verma A Persistent Müllerian duct syndrome: A case report. Indian J Surg 2013;75:460-2.  Back to cited text no. 5
    
6.
Kumar PN, Venugopala K Persistent Müllerian duct syndrome with transverse testicular ectopia. J Surg Tech Case Rep 2015;7:4-6.  Back to cited text no. 6
    
7.
Clemente A, Macchi V, Berretta M, Morra A Female form of persistent Müllerian duct syndrome: MDCT findings. Clin Imaging 2008;32:314-7.  Back to cited text no. 7
    
8.
Nerune SM, Hippargi SB, Mestri NB, Mehrotra NM Persistent Müllerian duct syndrome with ovarian endometriosis-A rare case report. J Clin Diagn Res 2016;10:ED14-5.  Back to cited text no. 8
    
9.
Sancar S, Özçakır E, Kaya M Management of the patients with persistent Müllerian duct syndrome: Is the ultimate goal testicular descent? Turk J Urol 2018;44:166-71.  Back to cited text no. 9
    
10.
Gujar NN, Choudhari RK, Choudhari GR, Bagali NM, Mane HS, Awati JS, et al. Male form of persistent Müllerian 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. 10
    


    Figures

  [Figure 1], [Figure 2]



 

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