Keywords
OHVIRA syndrome - hemiuterus - hemivagina - vaginal obstruction
Background
The OHVIRA syndrome—obstructed hemivagina and ipsilateral renal anomaly—formerly known
as Herlyn–Werner–Wunderlich syndrome, is a rare congenital anomaly of the female genitourinary
tract. It is characterized by an obstructed hemivagina and ipsilateral renal anomalies.[1] The underlying mechanism involves a lateral displacement of a paramesonephric/Müllerian
duct at approximately 6 weeks' postfertilization, which subsequently disrupts the
fusion with the contralateral Müllerian duct and the urogenital sinus.[2] The resulting anatomical structure is characterized by a completely obstructed hemivagina
(type 1) or an incompletely obstructed hemivagina (type 2). Type 1 is further subdivided
into a variant with blind hemivagina (type 1.1) or cervicovaginal atresia without
communicating uteri (type 1.2), whereas type 2 presents with either partial reabsorption
of the vaginal septum (type 2.1) or communicating uteri (type 2.2) ([Fig. 1]). The most common variants are type 1.1 and type 2.1 in about 85% of the cases,
with type 1.2 being the rarest variant accounting for less than 5% of the cases.[3] Endometriosis is a potential complication.
Fig. 1 Classification of OHVIRA syndrome based on Zhu et al.[3] (A) Type 1.1 with complete obstruction of the hemivagina. (B) Type 1.2, obstructed hemiuterus with cervicovaginal atresia. (C) Type 2.1 with partial reabsorption of the vaginal septum. (D) Type 2.2, communicating uteri and incompletely obstructed hemivagina. (E) Type 1.2 with ectopic obstructed hemiuterus and cervicovaginal atresia, as described
in the case report.
OHVIRA syndrome is associated with renal abnormalities in over 98% of patients, with
ipsilateral renal agenesis being the most common (93%). Multicystic dysplastic kidney,
contralateral duplex kidney, or ectopic kidney are comparatively rare.[4] This is because the Mullerian ducts originate from the same intermediate mesoderm
as the mesonephros.[4]
Symptoms vary according on the type of obstruction. Girls with complete obstruction
(type 1) typically experience pelvic pain due to hematometra shortly after menarche.
Women with partial obstruction are usually diagnosed in adulthood because of unspecific
symptoms, such as dysmenorrhea. On ultrasound, a cystic pelvic mass may be misdiagnosed
as an appendiceal abscess or ovarian cyst.[5] It is important for the attending physician to be aware of this condition. The combination
of ultrasound or magnetic resonance imaging (MRI) showing uterus didelphys and hematometra
with ipsilateral renal agenesis or other renal abnormalities should allow rapid diagnosis.
The general therapeutic principle is to resect the vaginal septum and drain the hematocolpos.
In females, inguinal hernias occur as a result of incomplete closure of the canal
of Nuck. The hernia usually involves the ovary and, less commonly, the Fallopian tube
or even the uterus. Inguinal hernias are extremely rare in women of reproductive age.[6]
Case Presentation
A 12-year-old girl presented to our pediatric surgical service with acute groin swelling.
An ultrasound showed that the left ovary was located in the left inguinal canal, and
color Doppler ultrasound showed normal perfusion ([Fig. 2]). No further attention was given at this time to the known secondary finding of
an ectopic pelvic kidney. An open Inguinal hernia repair was planned as a day case.
During the operation, a cyst of Nuck was discovered when the left inguinal canal was
opened. The cyst contained an ovary, Fallopian tube, and a hemiuterus, which were
not connected to the pelvis or vagina ([Fig. 3]). A digital vaginal examination revealed an unremarkable vagina and cervix. For
further investigation, a diagnostic laparoscopy was performed that revealed a normal
right hemiuterus and an unremarkable right ovary. The left inguinal hemiuterus was
then resected. To move the left ovary into the pelvis, we transected the closed inner
inguinal ring laparoscopically and pulled the ovary through. To prevent torsion, we
fixed the ovary to the lateral abdominal wall and ligated the internal inguinal ring
with absorbable sutures. The postoperative course was uneventful. The histopathological
findings confirmed the presence of a hemiuterus without evidence of a cervix.
Fig. 2 (A) Ultrasound of inguinal ovary in the 12-year-old patient; color Doppler, arrow shows
the ectopic ovary. (B, C) Abdominal magnetic resonance imaging of the 8-year-old patient with left ectopic
pelvic kidney (B), three arrows, and inguinal ectopic ovary (C), arrow.
Fig. 3 (A) Intraoperative view of the left inguinal atretic hemiuterus (*) and ovary (**).
(B). Closed left internal inguinal ring from laparoscopic view (arrow). (C). Right-sided orthotopic hemiuterus (*). (D). Pulled-through left ovary (*) before. (E) After fixation to the abdominal wall and reclosure of the internal inguinal ring.
The patient's detailed history revealed a history of recurrent groin and pelvic pain
since menarche 6 months previously, synchronized with menstrual periods. A previous
gynecological examination for these complaints had been inconclusive.
A review of the patient's medical history revealed that an MRI of the abdomen had
been performed when the patient was 8 years old to rule out a suspected anomaly of
the left ectopic pelvic kidney. In retrospect, the ovary could have been seen in the
left groin ([Fig. 1]).
At follow-up 1 year after surgery, the patient reported pain-free menstruation. On
ultrasound, the right ovary was attached to the lateral abdominal wall and color Doppler
ultrasound showed normal perfusion.
Discussion and Conclusion
The OHVIRA syndrome is a rare condition with an estimated incidence of 0.1 to 3.8%
in the female population.[7] The classification distinguishes between partial and complete obstruction.[3] In 1,673 reported cases of OHVIRA syndrome, most patients (46.7%) had a completely
obstructed hemivagina and a completely isolated hemiuterus (type 1.1), followed by
females with a small communication between the hemivaginas (39.2%, type 2.1). According
to this meta-analysis, 11.9% of patients had a small communication between the hemiuteri
(type 2.2), whereas only 2.2% had cervicovaginal atresia without communicating uteri
(type 1.2).[8] In this reported case, the patient presented with a rare condition of type 1.2 condition
with simultaneous localization of the ovary, Fallopian tube, and hemiuterus in the
canal of Nuck ([Fig. 1E]). There was no history of a sliding hernia in early childhood, and laparoscopy suggested
that the herniation must have been present since early infancy as the internal inguinal
ring was closed. The MRI performed at the age of 8 years confirmed the preexisting
childhood hernia. There was no record or retrospective report of groin pain prior
to menarche.
OHVIRA syndrome arises from a failure of embryonic development of the paired Müllerian
ducts, which develop on the mesonephric kidneys, and their derivatives, including
the Fallopian tubes, uterus, cervix, and the proximal third of the vagina. The maldevelopment
is initiated around the sixth week of gestation due to the absence of a physical guide
for the Müllerian ducts to descend and fuse with one another and with the urogenital
sinus. It is hypothesized that the Wolffian ducts, which are located medially to the
Müllerian ducts, act as a physical guide before their regression in embryos with XX
chromosomes. Consequently, the Müllerian duct shifts to the ipsilateral side, resulting
in a uterus didelphis. Furthermore, the failure of fusion with the urogenital sinus
of one Müllerian duct leads to an obstructed hemivagina.[2] Moreover, the formation of the broad ligament is interfered by the missing fusion
of the Müllerian ducts leading to a looser suspension of the affected hemiuterus.
Dislocation of the ovaries into the inguinal canal may occur in cases of inguinal
hernias with missing obliteration of the processus vaginalis. Congenital inguinal
ectopy of the ovaries has been described in the literature, particularly in women
with Mayer–Rokitansky–Küster–Hauser syndrome and Müllerian anomalies.[9] The round ligaments, which are remnants of the gubernaculum, normally prevent the
ovaries from descending inguinally and serve as a ligamentous support for the uterus
and ovaries. The gubernaculum arises from the gonadal ridge as undifferentiated mesenchymal
tissue and is attached to the gonadal tissue. During the early stages of urogenital
development, the gubernaculum differentiates into a connective tissue band that runs
from the ovary to the uterus, continuing further through the canal of Nuck to the
labia majora.[10] In the absence of gubernaculum-mediated descent inhibition, the ovaries may descend
through the inguinal canal. In female mice, the overexpression of insulin-like 3 peptide
(Insl3) has been observed to result in a comparable inguinal descent of the ovaries.[11]
In the majority of cases of OHVIRA syndrome, the complexity of surgery is manageable
once the diagnosis has been made. If feasible, surgery should be performed as soon
as possible after menarche in order to reduce the risk of concurrent endometriosis.
Resection of the septum is facilitated by a large distended hematocolpos, so the operation
should be performed around the time of menstruation. In patients with OHVIRA type
1.1, 2.1, or 2.2, the vaginal septum is resected via a transvaginal approach; in cases
of type 2.2, the uterine septum can also be resected via a minimally invasive laparoscopic
approach.[12]
For patients with type 1.2, it is recommended to resect the atretic hemiuterus given
the difficulty of correcting cervical agenesis surgically. This can be achieved through
a laparoscopic or inguinal approach, as demonstrated in the reported case of inguinal
ectopic hemiuterus. However, it should be noted that pregnancy outcomes in women with
OHVIRA syndrome are underreported in literature. A recent study reported higher incidences
of spontaneous abortion, preterm birth, breech presentation, and cesarean delivery
compared with the general population.[13]
