Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report

Abstract

Rationale:
Persistent Müllerian duct syndrome (PMDS) is rare form of male pseudohermaphroditism characterized by the presence of uterus and fallopian tubes with normal external genitalia and secondary sexual characteristics. Transverse testicular ectopia (TTE) is also a rare form of testicular ectopia that may be associated with PMDS.

Patient concerns:
We present a 2-year-old boy who presented with bilateral non-palpable testes with left inguinal mass.

Diagnosis:
TTE with PMDS.

Interventions:
On exploration, both testes were present in the left inguinal region. Uterus and fallopian tubes were located between the testes. A hysterectomy was perfomed with resection of the underdeveloped fallopian tubes. Bilateral orchiopexy was performed by placing both gonads into subdartos pouches in each scrotum with transseptal approach.

Outcomes:
Both testes were palpable in both the scrotum at 1-year postoperative follow-up and we are planning a regular follow-up.

Lessons:
In case of TTE with PMDS, optimal surgical approach with orchiopexy and excision of Müllerian duct should be needed. A long-term postoperative follow-up is necessary for assessment of malignant transformation and infertility.

Full text

Transverse testicular ectopia associated with
persistent Müllerian duct syndrome treated by
transseptal orchiopexy
A case report
Ho Seok Chung, MD, PhD
a
, Sun-Ouck Kim, MD, PhD
a,∗
, Ho Song Yu, MD
a
, Sung-Sun Kim, MD, PhD
b
,
Dong Deuk Kwon, MD, PhD
a
Abstract
Rationale: Persistent Müllerian duct syndrome (PMDS) is rare form of male pseudohermaphroditism characterized by the presence
of uterus and fallopian tubes with normal external genitalia and secondary sexual characteristics. Transverse testicular ectopia (TTE)
is also a rare form of testicular ectopia that may be associated with PMDS.
Patient concerns: We present a 2-year-old boy who presented with bilateral non-palpable testes with left inguinal mass.
Diagnosis: TTE with PMDS.
Interventions: On exploration, both testes were present in the left inguinal region. Uterus and fallopian tubes were located
between the testes. A hysterectomy was perfomed with resection of the underdeveloped fallopian tubes. Bilateral orchiopexy was
performed by placing both gonads into subdartos pouches in each scrotum with transseptal approach.
Outcomes: Both testes were palpable in both the scrotum at 1-year postoperative follow-up and we are planning a regular follow-
up.
Lessons: In case of TTE with PMDS, optimal surgical approach with orchiopexy and excision of Müllerian duct should be needed. A
long-term postoperative follow-up is necessary for assessment of malignant transformation and infertility.
Abbreviations: MIF =Müllerian duct inhibitory factor, PMDS =persistent Müllerian duct syndrome, TTE =transverse testicular
ectopia.
Keywords: child, persistent Müllerian duct syndrome, transverse testicular
1. Introduction
Persistent Müllerian duct syndrome (PMDS) may result from the
failure of synthesis of Müllerian duct inhibitory factor (MIF) or
the failure of activation of MIF in end organs.
[1,2]
In most cases
external genitalia shows normal male appearance, so the
diagnosis is often made incidentally during herniorrhaphy or
exploration for undescended testis. Subsequently, more than 200
cases have appeared in the literature.
[3]
Transverse testicular
ectopia (TTE) is a rare form of ectopic testis. In this condition,
both testes are located in one inguinal side. The association
between PMDS and TTE is even more uncommon. We report a
case of an infant in which PMDS and TTE were diagnosed at
operation for bilateral undescended testes.
2. Case report
A 2-year-old boy was admitted with bilateral undescended
testes. On physical examination, both testes were not palpable
in the scrotum and a firm mass was palpated in the left inguinal
area. Other physical findings were normal. Ultrasonography
showed 2 undescended testes in left inguinal canal and
herniation of omental fat through the left inguinal canal
(Fig. 1). At the time of operation, the left inguinal region was
explored initially. Around 2 gonads were found in the left
inguinal area, both gonads were similar sized and located
vertically. There were 2 vas deferenses and vascular structures
accompanying each gonad, between them tubular structures
resembling an immature uterus and fallopian tubes were located
(Fig. 2). Both gonads were placed into subdartos pouches in
each scrotum by the transseptal approach. The tubular
structures were carefully removed and the histopathologic
examination showed PMD (Figs. 2 and 3). After operation, all
hormonal studies showed normal and the karyotype based on
peripheral blood was 46 XY. This study was approved by the
institutional review board of the Chonnam National University
Hospital. Informed consent for publication of the case details
was given by the patient’sfamily.
Editor: N/A.
The authors have no conflicts of interest to disclose.
a
Departments of Urology,
b
Pathology, Chonnam National University Medical
School, Gwangju, Korea.
∗
Correspondence: Sun-Ouck Kim, Department of Urology, Chonnam National
University Medical School, 42 Jebongro, Donggu, Gwangju, 61469, Republic of
Korea (e-mail: seinsena@hanmail.net).
Copyright ©2018 the Author(s). Published by Wolters Kluwer Health, Inc.
This is an open access article distributed under the terms of the Creative
Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-
ND), where it is permissible to download and share the work provided it is
properly cited. The work cannot be changed in any way or used commercially
without permission from the journal.
Medicine (2018) 97:48(e13305)
Received: 28 June 2018 / Accepted: 25 October 2018
http://dx.doi.org/10.1097/MD.0000000000013305
Clinical Case Report Medicine®
OPEN
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3. Discussion
TTE is a rare form of testicular ectopia of uncertain embryologi-
cal etiology, which is commonly associated with other anomalies
like PMDS, inguinal hernia, hypospadias, true hermaphroditism,
pseudohermaphroditism, or scrotal anomaly. Several theories
explain the genesis of TTE. The possibility of the development of
both testes form the same genital ridge was reported by Berg.
[4]
Kimura concluded that if both vas deferenses arose from one side,
there had been unilateral origin but if there was bilateral origin, one
testis had crossed over.
[5]
Gupta and Das
[6]
hypothesize that the
adherence and fusion of the developing Wolffian ducts took place
early, and that descent of one testis caused thesecond one to follow.
TTE can be classified to 3 types by the presence of associated
disorders: Type 1, accompanied only by hernia (40% to 50%);
type 2, accompanied by persistent or rudimentary Müllerian duct
structures (30%); and type 3, associated with disorders other
than persistent Müllerian remnants (inguinal hernia, hypospadi-
as, pseudohermaphroditism, and scrotal abnormalities) (20%).
[7]
The overall incidence of malignant transformation of gonads in
TTE is 18%.
[8]
For the preservation of fertility, a surgical
approach in the form of orchiopexy is recommended after the
diagnosis of TTE is made. Either trans-septal or extra-peritoneal
transposition orchiopexy is possible. A search for Müllerian
remnants and other anomalies and long term postoperative
follow-up should be necessary.
PMDS shows karyotype of 46 XY and normal male external
genitalia, with internal Müllerian duct structures. In PMDS
patients undescended testes, fallopian tubes, uterus or upper
vagina may be seen and in most cases diagnosis are made by the
presence of those structures while exploration is performed.
Figure 1. Ultrasonography of left inguinal area showing both testes.
Figure 2. Macroscopic and microscopic features. Macroscopically, the rudimentary uterus (arrowhead) and fallopian tube (arrow) were observed (A).
Microscopically, uterus was composed of endometrial tissue, myometrium and perimetrium (B, D). Fallopian tube was composed of mucosa with branching folds
and muscular wall (C). [(B) hematoxylin and eosin, 12.5; (C) 40; (D) 100)].
Chung et al. Medicine (2018) 97:48 Medicine
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Transseptal orchiopexy is the operative procedure of choice.
[9]
A testis with longer spermatic cord and vessels can be placed in
the empty scrotum after crossing the scrotal midline septum.
[10]
It
is controversial whether that the Müllerian duct remnants should
be removed or not. However, most clinicians recommend the
removal and undergoing biopsy of the persistent Müllerian
structures. The vas deferens and vessels should not be dissected
extensively because of the possibility of trauma. In this case, both
testes were well palpated in both sides of scrotum at 1-year
postoperative follow-up and we are planning a regular follow-up.
TTE associated with PMDS is a rare case which is incidentally
discovered during surgery of undescended testis. In these patients,
optimal surgical approach with orchiopexy and excision of
Müllerian duct is needed. A long term postoperative follow-up is
necessary for assessment of malignant transformation and
infertility.
Author contributions
Conceptualization:Sun-Ouck Kim.
Data curation: Ho Seok Chung, Ho Song Yu, Sung-Sun Kim.
Investigation: Sun-Ouck Kim, Sung-Sun Kim, Dong Deuk Kwon.
Writing –original draft: Ho Seok Chung.
Writing –review & editing: Ho Seok Chung, Sun-Ouck Kim.
References
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24-year experience. J Pediatr Surg 2016;51:1721–4.
[4] Berg AA. Transverse ectopy of the testis. Ann Surg 1904;40:223–4.
[5] Kimura T. Transverse ectopy of the testis with masculine uterus. Ann
Surg 1918;68:420–5.
[6] Gupta RL, Das P. Ectopia testis transversa. J Indian Med Assoc
1960;35:547–9.
[7] Gauderer MW, Grisoni ER, Stellato TA, et al. Transverse testicular
ectopia. J Pediatr Surg 1982;17:43–7.
[8] Berkmen F. Persistent müllerian duct syndrome with or without
transverse testicular ectopia and testis tumours. Br J Urol 1997;79:
122–6.
[9] Karnak I, Tanyel FC, Akçören Z, et al. Transverse testicular ectopia with
persistent Müllerian duct syndrome. J Pediatr Surg 1997;32:1362–4.
[10] Tiryakia T, Hücümenog
̆S, Atayurta H. Transverse testicular ectopia
associated with persistent Müllerian duct syndrome, a case report. Urol
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Figure 3. Immunohistochemical findings. (A) Endometrial glandular epithelium was immunopositive for estrogen receptor (B) and endometrial stroma was positive
for CD10 (C). Myometrial tissue was strong positive for smooth muscle actin (D).
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