Transverse testicular ectopia with persistent mullerian duct syndrome

Abstract

Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male. Transverse testicular ectopia (TTE) is a rare disease in which both testes are located in the same inguinal canal. We report a case of PMDS with TTE in a 1-year-old child who presented with non-palpable testis on right side with hernia on left side. Left herniotomy with bilateral trans-septal orchidopexy was done in this patient.

Full text

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GuptaA, etal. BMJ Case Rep 2018. doi:10.1136/bcr-2017-223994
CASE REPORT
Transverse testicular ectopia with persistent mullerian
ductsyndrome
Archit Gupta, Prince Raj, Rajinder Singh Jhobta
Rare disease
To cite: GuptaA, RajP,
JhobtaRS. BMJ Case Rep
Published Online First:
[please include Day Month
Year]. doi:10.1136/bcr-2017-
223994
Department of Surgery, Indira
Gandhi Medical College, Shimla,
India
Correspondence to
Dr Archit Gupta,
archit9th@ gmail. com
Accepted 6 April 2018
SUMMARY
Persistent mullerian duct syndrome (PMDS) is a rare
form of male pseudohermaphroditism caused by defects
in synthesis or actions of mullerian inhibiting factor
characterised by persistence of mullerian duct structures
in a normal karyotype male. Transverse testicular ectopia
(TTE) is a rare disease in which both testes are located
in the same inguinal canal. We report a case of PMDS
with TTE in a 1-year-old child who presented with non-
palpable testis on right side with hernia on left side. Left
herniotomy with bilateral trans-septal orchidopexy was
done in this patient.
BACKGROUND
Persistent mullerian duct syndrome (PMDS) is a
form of male disorder of sexual differentiation
with persistence of mullerian duct structures char-
acterised by the presence of uterus and fallopian
tubes in a phenotypically and genotypically normal
male.1 Transverse testicular ectopia (TTE) is a rare
form of testicular ectopia in which both testes are
located in the same inguinal canal. We report a case
of PMDS with TTE in a 1-year-old child.
CASE PRESENTATION
A 1-year-old male child presented to surgery outpa-
tient department with complaints of swelling in
left inguinal region and absent right testis since
birth. The child was born by a full-term normal
vaginal delivery. There was no history of any other
congenital anomaly and was adequately immunised.
There was no history of undescended testes or any
congenital anomaly in the family. On examina-
tion, a swelling of size 1 × 1 cm was present in
left inguinal region. Swelling was more apparent on
standing or crying. Right testis was not palpable.
There was no developmental delay and examina-
tion of other systems was within normal limits.
INVESTIGATIONS
Haemoglobin was 11.1 g/dL. Total leucocyte count
was 6500/mm3.
TREATMENT
The patient was taken up for elective surgery with
a diagnosis of left congenital hernia with right
undescended testis. On exploration, left hernia sac
had mullerian duct remnant with both the testes
(figure 1). Left herniotomy with bilateral trans-
septal subdartos orchidopexy was done under
general anaesthesia.
OUTCOME AND FOLLOW-UP
Postoperative period was uneventful and the patient
was discharged on postoperative day 2.
DISCUSSION
TTE is a rare form of ectopic testes. TTE was first
reported as a finding at autopsy by Von Lenhossek
in 1886.2
PMDS is caused by defects in synthesis or actions
of mullerian inhibiting factor.3 It is characterised by
normal male karyotype with persistent mullerian
duct derivatives.
Jordan described TTE with PMDS for the first
time in 1895.2 PMDS with TTE is a rare anomaly
that is usually encountered at the time of laparos-
copy or while exploring for inguinal hernia. This
anomaly combines abnormal testicular descent with
regression of fetal mullerian structures.
Hutson et al classified PMDS into three groups.1
Group A is the female type where testes are in posi-
tion of normal ovaries. Group B is the male type
with one testis in hernial sac or scrotum with the
uterus and tubes. Group C is also male type with
both testes found in same hernial sac with associ-
ated tubes and uterus. Our patient was Group C
PMDS.
Figure 1 Intraoperative picture showing bilateral testes
in the same inguinal canal with persistent mullerian duct
structures.

2GuptaA, etal. BMJ Case Rep 2018. doi:10.1136/bcr-2017-223994
Rare disease
Most of the patients are diagnosed at the time of surgery.
However, ultrasonography and MRI help in diagnosing it preop-
eratively. Hormonal assessment is not done routinely.4
In our case, imaging was not done and patient was taken for
upfront surgery.
Treatment of PMDS is surgical and involves correction of
cryptorchidism. Various methods have been described like fixa-
tion of testes on opposite side through suprapubic subcutaneous
tunnel or herniotomy with trans-septal fixation of testes.5
Orchidectomy can be done if testes cannot be mobilised or if
there is a risk of malignancy. Orchidectomy should be followed
by lifelong supplementation of testosterone.
Laparoscopy can be used for diagnosis and management of
undescended testes. Kamble et al1 were the first to describe total
laparoscopic repair for TTE with PMDS in 2015. Laparoscopy
is now becoming the route of choice for management of such
cases.
There are reports of seminoma, embryonal cell carcinoma,
clear cell adenocarcinoma and yolk sac tumours in patients with
PMDS.6 However, recent studies suggest the incidence of these
is similar to that of a normal cryptorchid child.7
Removal of persistent mullerian duct structures is associated
with high rate of injury to vas deferens. Hysterectomy is only
indicated when these structures limit the placement of testes in
scrotum.8
In our case, herniotomy with trans-septal fixation of testes was
done and the patient was kept on follow-up.
Contributors PR has done definition of intellectual content and manuscript review.
AG has searched the literature and prepared the manuscript and RSJ did manuscript
editing.
Funding The authors have not declared a specific grant for this research from any
funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article)
2018. All rights reserved. No commercial use is permitted unless otherwise expressly
granted.
REFERENCES
1 Kamble RS, Gupta RK, Gupta AR, et al. Laparoscopic management of transverse
testicular ectopia with persistent mullerian duct syndrome. J Minim Access Surg
2015;11:213–5.
2 Von Lenhossek M. Ectopia testis transversa. Anat Anz 1886;1:376.
3 Gujar NN, Choudhari RK, Choudhari GR, 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.
4 Berkmen F. Persistent müllerian duct syndrome with or without transverse testicular
ectopia and testis tumours. Br J Urol 1997;79:122–6.
5 Telli O, Gökçe MI, Haciyev P, et al. Transverse testicular ectopia: a rare presentation with
persistent Müllerian duct syndrome. J Clin Res Pediatr Endocrinol 2014;6:180–2.
6 Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the müllerian
duct in persistent müllerian duct syndrome: the first reported case. Am J Surg Pathol
2002;26:1231–4.
7 Farikullah J, Ehtisham S, Nappo S, et al. Persistent Müllerian duct syndrome: lessons
learned from managing a series of eight patients over a 10-year period and review of
literature regarding malignant risk from the Müllerian remnants. BJU Int 2012;110:E10
84–E1089.
8 Kumar PN, Venugopala K. Persistent mullerian duct syndrome with transverse testicular
ectopia. J Surg Tech Case Rep 2015;7:4–6.
Learning points
►Persistent mullerian duct syndrome with transverse testicular
ectopia is a rare anomaly which combines abnormal testicular
descent with failure of regression of fetal mullerian structures.
►Diagnosis is usually made at the time of surgery.
►Treatment involves correction of cryptorchidism.
►Removal of persistent mullerian structures is not mandatory
and is associated with high rate of injury to vas deferens.
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