Introduction:
Sigmoid vaginoplasty is a common procedure done for patients with MRKH
syndrome with its known benefits. However, situs inverses totalis with
MRKH is a rare entity. We discuss the sigmoid vaginoplasty done on this
patient and the follow up. This case is presented here to bring to light
of this unique combination of genital and gastrointestinal anomalies and
its management.
Case capsule:
A 26 years old lady presented to us with primary amenorrhoea. She had
her first consultation for the same problem at the age of 16 years. An
ultrasound was done showed absent uterus and normal ovaries. She was
advised a Magnetic Resonance (MR) imaging for further clarification. At
that point, she could not get this done due to financial and social
circumstances.
On examination, she had fully developed secondary sexual characters.
Perineal examination revealed a shallow pit in the place of vagina.
Karyotyping was 46XX; FSH and LH levels were normal.
A MR imaging done now showed transposition of intra abdominal viscera
and dextrocardia - situs inversus totalis, horse shoe kidney and absent
left ovary and the uterus (Fig 1).
As the patient has situs inversus totalis, we decided to do an
arteriogram to look for the inferior mesenteric arterial arcade. The
vascular pattern was an exact mirror image of the normal pattern (Fig
2).
After thorough counselling with the patient and the parents, we prepared
her bowel and took her for bowel vaginoplasty. A vertical midline below
umbilical incision was made. The pelvis was inspected - there was normal
looking right ovary above the pelvic brim and the left ovary was absent.
The uterus was rudimentary. A tunnel was created in the recto-vesical
channel by simultaneous dissection in perineum and the vaginal pit. The
track was dilated using the Hegar’s dilater. The descending colon was
mobilised from the splenic flexure. The sigmoid colon was severed
beneath the left colic artery and at the level of the pelvic brim (Fig
3). Few proximal sigmoid vessels supplying graft were tied to gain more
length. The distal end of the sigmoid colon was closed using the
absorbable sutures. The proximal end now rotated at 180 degrees on the
sigmoid vascular pedical (inverted pedicles graft). The open proximal
end is brought out of the vaginal pit in the Introits and anastomosed.
The descending colon was anastomosed to the rectum after mobilisation of
splenic flexure and the abdomen was closed. The post-operative period
was uneventful. She was started on feeds from the 4th day of surgery and
was discharged on the 6th day of surgery. She was started on dilatation
on the following week. Vaginal douching was advised once a day. She is
on regular follow-up with no other complaints; her vagina admits two
fingers and is about 10 cms long. She is yet to find a partner.
Discussion:
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital
anomaly with a genotype of 46XX. Here we see aplasia of the uterus and
vagina with normal ovaries and normal development of secondary sexual
characteristics. MRKH presents in two types. Type 1 (Rokitansky
sequence) is Mullarian duct aplasia in isolation. Type 2 or MURCS
(Mullarian renal cervical somite) association. The MURCS association has
triad of main manifestations - genital, renal (unilateral absent
kidneys, ectopic kidneys, horseshoe kidneys), and skeletal defects
(kypho-scoliosis, fused cervical vertebrae, stapedial
ankylosis)1. MRKH type 2 is thought to be the more
severe form of the MRKH spectrum2. This disease when
occurs in familial settings, is inherited as Autosomal dominant pattern.
The disease presents with incomplete penetrance and variable
expressivity. The situs inversus totalis is seen in MRKH type 2 or MURCS
association2. These defects suggest the involvement of
the homeobox (HOX) genes. HOX genes play a key role during the
embryogenesis of axial skeleton, hind brain and urogenital
system3. However, we could not find skeletal
association in our patient.
The situs inversus totalis is also called the “mirror man”, where the
internal organs of body are rotated by 180 degrees. It is called
“totalis” when even the heart is on the right side. Surgical diagnosis
and surgical procedures in these patients is challenging due to the
mirror image anatomy. This degree of difficulty is more pronounced while
doing laparoscopic surgeries. Other important aspect of situs inversus
is the associated vascular anomalies4. This made us to
do the angiography in our patient to have a prior vascular anatomy
knowledge. Intra - operatively, the vascular arcades looked better from
the left side of the patient. We did not encounter any problems during
the procedure.
Very important aspect of treatment of MRKH is age of the patient.
Treatment of MRKH is a multi-departmental approach.
The non-operative Frank and Ingram technique of progressive pressure
onto the vaginal pit using dilators has been less popular due to its
unsatisfactory results and poor compliance5.
Many operative (McIndoe’s, William’s, Vecchieti’s,) methods of vaginal
replacement have been explained, McIndoe’s technique, where the skin
grafts are placed between the urethra and the rectum by blunt dissection
in this area. William’s vaginoplasty involves a vulvar flap to make the
vaginal tube. The Vecchieti technique is based on stretching of the
vaginal dimple via acrylic mould passed in the neo-vaginal space and
pulled by sub-peritoneal threads. The vagina will lengthen over a period
of days to weeks5.
The sigmoid vaginoplasty has stood the test of time1.
The disadvantage with this technique is its pre-operative preparation,
invasiveness and bowel complications like anastomotic leak, mechanical
bowel obstruction, and diversion colitis5. Definitely,
there is nothing to match characters of the normal vagina; however
sigmoid colon has many similarities compared to normal vagina. The
sigmoid colon can be harvested either in isoperistaltic or anti
peristaltic manner. Few studies have also shown the advantages of ileum
over sigmoid colon - no feculant smell and diversion
colitis5. The diversion colitis is a problem in
colonic diversions due to lack of short chain fatty acids and colonic
bacteria of faeces in the diverted segment5.
Selecting the part of the intestine (Ilium vs Sigmoid) is more to do
with surgeons comfort and familiarity with the procedure.
To avoid injury to the rectum and the urinary bladder - we start the
abdominal dissection first by following the utero-sacral ligaments to
the rudimentary uterus. Then the vaginal dissection started.
Laparoscopic sigmoid vaginoplasty has its own advantages like better
cosmetic results, less invasiveness and early recovery. However, the
disadvantage of Laparoscopy being long learning curve and long operating
time5. Various methods have been explained on
harvesting the sigmoid graft based on the vascular pedicle; what we did
was the inverted sigmoid colon graft based on sigmoid arteries.
The other disadvantage of sigmoid vaginoplasty is prolonged periods of
fasting due to bowel preparation before surgery and bowel anastomosis.
Recently many centers are using Enhanced Recovery After Surgery (ERAS)
protocols - fast track bowel regimes have been used for early
recuperation from this major surgery6.
In rare instances, MRKH mothers can have children with their oocytes
being harvested, fertilised and implanted in a surrogate mother. It is
also important that these mothers should take the decision to conceive
seriously, as this is of genetic origin.
Conclusion:
MRKH with Situs inversus totalis is a rare congenital anomaly. Sigmoid
vaginoplasty is the gold standard procedure. Operating on this unique
combination of anomalies needs prior vascular anatomy knowledge for
mental orientation.
Disclosure of interests: None
Contribution of authorship: This write up is a teamwork. The main author
of this paper is Dr Subramanya Kattepura, who is also the chief surgeon
and he was assisted is various aspects by the other two authors – Drs
Apurva Bhaskar and Sowmya Gopinath.
Patient’s consent: We have taken a written informed consent of the
patient.
We have not received any funding for this paper.
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