Open Access Case

Report DOI: 10.7759/cureus.

A Curious Case of Persistent Mullerian Duct

Syndrome (PMDS) with Seminoma: A Report of a
Rare Case
SHUBHAJEET ROY 1 , Nizamuddin Ansari 2 , Parijat Suryavanshi 2 , Gitika N. Singh 2 , Shreya Verma 1

1. Faculty of Medicine, King George's Medical University, Lucknow, IND 2. Surgery (General), King George's Medical
University, Lucknow, IND

Corresponding author: Nizamuddin Ansari, nizam290187ansari@gmail.com

Abstract
Persistent Mullerian Duct Syndrome (PMDS) is rare male pseudo-hermaphroditism, in which the Mullerian
duct derivatives are present in an otherwise phenotypic male, due to defective Anti Mullerian Hormone
(AMH) secretion or receptors. We present the case of a 31-year-old male, who was primarily infertile, and
presented with pain and a lump in the infraumbilical region. Bilaterally testes were absent in the scrotal sac,
with the right testis being at the level of the deep inguinal ring. The left testis was not visualised. Fine
Needle Aspiration Cytology (FNAC) from this mass was suggestive of germ cell tumor (seminoma). He
underwent Bleomycin, Etoposide, Cisplatin (BEP) chemotherapy regimen. Following this, left-sided
orchiectomy with excision of residual mass along with spermatic cord was done followed by right-sided
orchidopexy to restore the fertility of the patient. Patients having unilateral or bilateral undescended testis
associated with hernia or infertility must be thoroughly investigated by abdominal and pelvic radiology for
PMDS and associated malignancies.

Categories: Urology, General Surgery

Keywords: pseudohermaphroditism, mullerian duct derivatives, persistent mullerian duct syndrome, undescended
testes, seminoma

Introduction
Persistent Mullerian Duct Syndrome (PMDS) is a rare form of autosomal recessive disorder of sexual
development (DSD), first described by Nilson in 1939 [1]. The patients are genetically 46 XY and
phenotypically male. They present with unilateral or bilateral cryptorchidism along with the persistence of
Mullerian duct structures (uterus, fallopian tubes, and the upper part of the vagina) due to a deficiency in the
anti-Mullerian hormone (AMH) produced by Sertoli cells or its type II receptor (AMHR-II). A defect in the
receptor gene or a deficiency of anti-Mullerian hormone (AMH) can also result in this syndrome [2,3]. To the
present date, fewer than 200 cases have been reported worldwide. Among the reported cases, PMDS
complicated with testicular cancer has been rarely reported [4,5]. The gonads of PMDS patients are at an
increased risk for malignant transformation, the risk of malignancy being similar to that of cryptorchidism.
Patients having PMDS are observed to have Seminoma, Teratoma, yolk sac tumor, and Embryonal
carcinoma, teratoma [5]. The rate of malignancy in these patients is about 15%-18%. Here we report a case
of PMDS with seminoma testis [6].

Case Presentation
A 31-year-old male presented with a lump in the infra umbilical region of the abdomen, associated with pain
and distension below the umbilicus, for one month. The patient was married for two years with primary
infertility. He was of average built, well-nourished, and had well-developed male external genitalia and
secondary sexual characters. There was no significant family or medical history or any intervention in the
past .There was a well-defined, palpable mass in the infra-umbilical region. Bilateral testis were absent in
the Hemi scrotum, with a well-developed penis. Inguino scrotal ultrasonography revealed the absence of
bilateral testis in the scrotal sac. The Computerised Tomography (CT) scan reported an empty bilateral
hemi-scrotum with the right testis (3.9X2.3X1.8cm) being intra-abdominal and was noted at the level of the
deep inguinal ring. The left testis was not visualized. A well-defined, heterogeneously enhancing soft tissue
lesion (17.2X9.7X11.4cm) with non-enhancing necrotic areas was noted in the infra-umbilical region. The
lesion was abutting adjacent structures with maintained fat planes. Bilateral seminal vesicles (2.4X5.2cm
(right) and 4.3X1.9cm (left)) and ejaculatory ducts were noted to be bulky and adherent to the mass
posteriorly. FNAC from this mass was suggestive of a germ cell tumor (most likely seminoma testis). His
levels of AFP were 3.31ng/mL, β-HCG was 139.24mIU/mL and LDH was 1843.5IU/L. The patient was referred
to the Medical Oncology department and there he received 3 cycles of the Bleomycin, Etoposide, Cisplatin
(BEP) chemotherapy regimen.

A post-chemotherapy CT scan showed a bilaterally empty Hemi scrotum and both the testes were not
visualized. There was a regression in the well-defined enhancing soft tissue attenuation lesion in the

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rectovesical pouch from 17.2 x 9.7 x 11.4cm to 4.4 x 3.3cm, and well-defined homologous mildly enhancing
soft tissue (4.2 x 1.9 x 2.1cm) was noted in the right iliac fossa at the level of the deep inguinal ring, which
was likely of the undescended right testis.

Following chemotherapy, the patient was planned for surgery. Intraoperatively, a soft and large mass was
found in the infra umbilical region with right-sided undescended testes and a nonfunctional uterus and
fallopian tubes, indicating PMDS on the right side (Fig 1, 2 and 3). Left-sided gonadal mass removal with
excision of residual mass along with spermatic cord was done, followed by right-sided orchidopexy to
restore the fertility of the patient.

FIGURE 1: Mullerian Duct structures were identified

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FIGURE 2: Uterus, Ovary, Fallopian Tubes and Left Gonadal Mass were
identified and excised

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 FIGURE 3: Right-sided Orchidopexy was done

On gross pathological examination, the tumor extension was limited to the left-sided undescended testes
(5.5 x 2.9 x 2.0cm) and the resection margin of the spermatic cord (4.3 cm) was clear. The outer surface of the
tumor was encapsulated and was brownish-white in color. The consistency of the tumor was solid and it was
unifocal. On microscopic examination, there were a few foci of Intratubular Germ Cell Neoplasia
(Intratubular Seminoma) and occasional small clusters of germ cells (<50cells) infiltrating the diffusely
fibrotic testicular parenchyma. Microscopically, the extension of the tumor was limited to the left testis
only. The cells of the tumor were poorly differentiated; the nuclear grade was severe and showed an
infinitely large amount of mitosis, with necrosis being absent. Lymphovascular and Perineural invasions
were not detected. Pathologically, the tumor was graded as yT1aNx and for the response; it was graded as a
near-complete response. The results of immunohistochemistry were that occasional foci of remnant germ
cells and the intratubular components showed positivity for Placental Alkaline Phosphatase (PLAP), whereas
Sal Like protein 4 (SALL4), Cluster of Differentiation (CD-30), Alfa Feto Protein (AFP), and Pan-cytokeratin
(CK) were negative.

A postoperative CT scan showed an empty bilateral hemiscrotum and both the testes were not visualized.
Heterogeneously enhancing necrotic soft tissue lesion (32X41mm) was noted in the right inguinal region
with perilesional fat stranding and thickening of the wall of the inguinal canal. A large tubular cystic
structure was noted arising externally from it, which was suspected to be the dilated tail of the epididymis or
vas deferens. A linear peripherally enhancing soft tissue lesion was seen extending from the right iliac fossa
up to the right seminal vesicle, which was likely the inflamed vas deferens. Multiple lymph nodes were noted
in the preaortic, paraaortic, and left renal hilar regions, the largest measuring 18 x 16 mm.

Discussion
We present our case as a rare form of pseudo hermaphroditism in males (PMDS). This syndrome with an
autosomal recessive mode of transmission is caused by a deficiency of AMH (anti-Mullerian Hormone). This
is also known as the Mullerian Inhibiting Substance (MIS) [7,8]. This syndrome constitutes normal 46 XY
genotypic and phenotypically male with extra female genital organs, i.e. uterus, fallopian tubes, and an
upper vagina, which in fetal life are derived from the Mullerian Duct [9]. In the seventh week of gestation,
both Mullerian and Wolffian ducts are present. If the Wolffian duct develops normally, it will form male
reproductive organs. Following this, the Mullerian duct will be regressed and will not develop from the MIS

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released from the Sertoli cells of the male fetus [7]. The MIS is not released in a PMDS patient; therefore, he
will continue to form both female and male reproductive organs that are derived from the Mullerian duct and
Wolffian duct, respectively [9].

PMDS is also divided into three types based on the location of the testes and uterus. 60-70% of cases are
Type I which have testes in a position that is analogous to the ovaries along with intra-abdominal Mullerian.
The second type, which is about 20-30%, also known as hernia uteri inguinale has Mullerian structures along
with one testis in the hernial sac or scrotum. In the third type, approximately 10% have both testes in the
same hernia sac along with the fallopian tubes and uterus (transverse testicular ectopia) [2].

PMDS has been broadly classified into two anatomical types: female and male. Patients are predominantly in
the male category (90%). The male type is further sub-classified into transverse testicular ectopia and hernia
uteri inguinalis. Hernia uteri inguinalis is present in most patients, which includes unilateral cryptorchidism
and contralateral inguinal hernia [10]. Transverse testicular ectopia is very rare condition that constitutes
Mullerian structures and bilateral testis herniation in the same hernia sac [11].

Our patient comes under Type-one based on the location of the testis and uterus. Although the left-sided
testis was present in the position of the left-sided ovary, the right-sided testis was present at the level of the
inguinal ring. In our case, testicular seminoma was found in the left testis with a uterus and fallopian tube.
The female variant of PMDS, which is even less common, is characterized by the presence of both testes
being undescended and fixed in the round ligament [10].

Most cases of PMDS can be hard to diagnose, and they are most often missed due to unfamiliarity with the
condition [11,12]. For both types of PMDS, fewer than 200 cases exist in the literature; notably, most of these
cases are diagnosed in the pediatric population in patients younger than 10 years of age [11,13].

The diagnosis of PMDS is mainly incidental; it is often found during either hernia repair or surgery for
undescended testes [14]. The recognition of this syndrome is made by clinical history, genetic study, as well
as radiological examination. Ultrasound can be used to assess the hernia sac contents, uterine wall
thickness, any endometrial cavity collection, and intra-abdominal undescended testes [15,16]. The CT can
help in distinguishing the Mullerian structures [17]. An MRI is corroborative during its diagnosis because of
its greater morphological ability to delineate the pelvic organs and the complex structures in PMDS and due
to its different signal intensities that cannot be determined on either US or CT [10,11,15-17].

Our case was unique for the following reasons: 1) late clinical presentation and 2) primary infertility 3)
PMDS-associated testicular tumour (seminoma).The recognition of this unusual condition and the diagnosis
were established based on the radiological investigation (CT scan in our case).

The presence of undescended testis predisposes to the development of germ cell tumors. Seminomas are the
most common germ cell tumors found. In our case, we found the tumor to be seminoma. Most patients
reported in the literature were infertile, but few had children [18-20]. The patient in our study was infertile.
The vas deferens was adherent to the fallopian tube and the lateral border of the uterus, and both were
removed during surgery. A similar incidence has been documented by others. The surgeons should be aware
of this fact and preserve fertility by preserving the male ejaculatory structures. The removal of Mullerian
duct structures is strongly recommended as the development of adenocarcinoma has been reported. The
undescended testis, which is at an increased risk for germ cell tumor development, must be removed. As the
vasdeferens goes very close and adherent to the uterine walls,it may be difficult to remove the Mullerian
structures without damage to adjoining structures [15].

Removal of the Müllerian remnants was needed due to an increased risk of malignancy [11,13]. As per the
case series performed by Farikullah et al., they found that patients with PMDS will develop a malignancy of
Mullerian origin between 3.1% and 8.4% [13]. The risk of malignant transmission can be decreased by
orchidopexy followed by excision of the Mullerian duct remnants whenever it is possible [12, 13]. Mullerian
malignancies are more prone to develop than testicular cancer [11]. There is a 5 to 18% incidence of
testicular malignant transformation in the undescended testes of PMDS patients, which is alike to the
incidence of carcinoma testis in abdominal testes in patients without PMDS [13].

In all cases of PMDS, the aims of surgical intervention are both to avoid malignant changes and to preserve
fertility [11,13]. Laparoscopy is the preferable choice for surgery [12]. Farikullah et al. advised a long-term
follow-up with US or MRI due to the risk of malignant transformation, which often develops after puberty
[13].In our case, the patient was managed by the removal of Mullerian duct remnants and left gonadal mass,
along with right orchidopexy.

Conclusions
Patients having unilateral or bilateral undescended testis 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

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avoid the development of malignancy.

Additional Information
Disclosures
Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In
compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services
info: All authors have declared that no financial support was received from any organization for the
submitted work. Financial relationships: All authors have declared that they have no financial
relationships at present or within the previous three years with any organizations that might have an
interest in the submitted work. Other relationships: All authors have declared that there are no other
relationships or activities that could appear to have influenced the submitted work.

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