European Journal of Cardiovascular Medicine

A rare abnormality in the fetal development of the female genital tract known as the Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often associated with a 46xx chromosome pattern. 1:4000 newborn females have this condition. The syndrome has polygenic, multifactorial aetiology that is a genetic mutation/deletion of genes on chromosome16. Inguinal hernia is one of the most frequent issues among middle-aged people, which commonly contains the omentum and colon in rare cases, the urinary bladder, caecum, and appendix. Incomplete closure of the canal of nuck caused by failed closure of processes vaginalis in females is the continued outpouching of the parietal peritoneum containing ovaries fallopian tubes and uterus.  Ovarian hernias are a rare appearance that can be complicated by ovarian torsion, and incarceration. We have described a case report of MRKH syndrome associated with an inguinal hernia containing an ovary.

A 21-year-old married female presented to the Department of gynecology with a complaint of primary amenorrhea.  Patient was actively married for 5 months and gave a history of unsatisfactory intercourse.  On examination secondary sexual characteristics was normal.  A gentle vaginal examination revealed a blind vaginal pouch.  On USG absence of uterus and bilateral ovaries was noted (Fig 1) after which MR pelvis was advised.

Figure 1: Ultrasound of the pelvis with no visualization of the uterus in its normal anatomical position with a full urinary bladder.

Figure 2: T2 weighted axial image of the pelvis showing the right ovary in the right deep inguinal ring(orange arrow).

Figure 3: T2 Weighted image of the pelvis showing rudimentary bilateral uterine buds (Blue arrows). Left ovary is seen in the hemipelvis (Green arrow).

Imaging Findings:

The findings revealed absence of normal morphology of uterus, cervix and upper 2/3rd vagina with evidence of a small soft tissue in midline above the dome of urinary bladder, likely a Mullerian remnant.  Fibrous bands were seen extending from this midline soft tissue bilaterally and extending anterolaterally with their anterior ends lying deep to the ipsilateral inguinal ring Small hypointense soft tissue seen along the anterior end of these fibrous bands measured about 22x11x24mm on the right side and about 17. 5x12. 5x14mm on the left side deep to the inguinal ring - representing Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with rudimentary bilateral uterine buds (Fig 3). 

Left ovary was seen in the left hemipelvis posterior to the left external iliac vessels (Fig 3) and measured about 30x27x27mm (APxTDxCC).  It showed multiple small follicles in it.

Right ovary was not well visualized in its normal position.  However, a T2W hypointense tissue with multiple small cysts was seen in the right deep inguinal ring and adjacent lateral part of the right inguinal canal measured about 19×21×30mm (APxTDxCC) likely herniated/extra pelvic right ovary with the possibility of chronic ischemic changes (Fig 2).

Rest of the abdomen and pelvis were within normal limit.

Patient underwent surgery for hernia and vaginoplasty was done to maintain sexual intercourse.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital disorder characterized by the aplasia or severe hypoplasia of the structures derived from the Müllerian ducts, including the upper two-thirds of the vagina, uterus, and, in some cases, the fallopian tubes [1][ 4]. Despite normal female secondary sexual characteristics and a typical 46,XX karyotype, individuals with MRKH syndrome present with primary amenorrhea due to the absence of functional uterovaginal structures [3][5].

Incidence and Types of MRKH Syndrome

MRKH syndrome can be categorized into two types:

1. Type I (Typical): This involves isolated uterovaginal agenesis without additional malformations.
2. Type II (Atypical): This includes uterovaginal agenesis along with malformations of other organs, such as renal anomalies, skeletal abnormalities, and in some cases, ovarian hernias [3].

Ovarian hernias are relatively rare but notable occurrences in MRKH syndrome. These hernias typically involve the displacement of the ovaries and sometimes associated Mullerian structures, such as fallopian tubes and rudimentary uterine horns, through the inguinal canal.

The incidence of ovarian hernia in conjunction with MRKH is reported to be rare and is often underreported in the literature [4][6].

- Patients usually present with an inguinal swelling, which may be diagnosed incidentally during the investigation for primary amenorrhea or as a part of the diagnostic imaging for inguinal pain or localized discomfort [2][6].

Several anatomical and developmental factors predispose to the occurrence of ovarian hernias:

Incomplete Fusion of Mullerian Ducts: Contributing to the hypermobility of the ovary [1].

Patent Processus Vaginalis (Canal of Nuck): Leading to herniation through the inguinal canal, which typically should close within the first year of postnatal life [6].

Congenital Elongation of Ovarian Ligaments: Increasing the risk of herniation [2].

Risks of Ovarian Hernia:

Ovarian Torsion and Infarction: Herniated ovaries are at risk of torsion, leading to necrosis if not promptly managed [6].

Potential for Early Ovarian Aging and Malignancy: Ectopically positioned ovaries may have a predisposition to earlier aging or malignant transformation [6].

Clinical Presentation:

- Patients with ovarian hernias typically present with an inguinal swelling, which may vary in size from childhood to adolescence [6].

- A detailed physical examination and imaging, such as MRI, are essential to identify and delineate the herniated structures [2].

Surgical Management:

-Laparoscopic Hernia Repair: Is the preferred method for repositioning herniated ovarian structures. This minimally invasive approach allows for early postoperative recovery and preserves ovarian function [6].

- Thorough Preoperative Evaluation: Including karyotype analysis and imaging to plan the extent and approach of surgery, is crucial for optimal outcomes [2].

In summary, ovarian hernias in patients with MRKH syndrome, although rare, present unique clinical challenges and risks. Comprehensive diagnostic evaluations, including imaging and karyotyping, are vital for precise diagnosis and effective management of these cases. Laparoscopic surgical approaches provide a less invasive option for repositioning herniated ovarian structures, safeguarding future fertility potential and reducing the risk of complications. Surgical correction by creating a neovagina is a good treatment method in young females for sexual intercourse.This confluence of MRKH syndrome and ovarian hernias underscores the importance of thorough clinical assessments and tailored management strategies to ensure favorable patient outcomes. 

1. Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020 Aug 20;15(1):214.
2. Bhatta S, Ojha H, Ansari MA, Shrestha A. Bilateral indirect ovarian inguinal hernia in a young female with type 1 Mayer-Rokitansky-Küster-Hauser syndrome: An extremely rare clinical context. Clin Case Rep. 2024 Apr 5;12(4):e8732.
3. Pizzo A, Laganà AS, Sturlese E, Retto G, Retto A, De Dominici R, Puzzolo D. Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol. 2013;2013:628717.
4. Londra L, Chuong FS, Kolp L. Mayer-Rokitansky-Kuster-Hauser syndrome: a review. Int J Womens Health. 2015 Nov 2;7:865-70.
5. Valappil S, Chetan U, Wood N, Garden A. Mayer-Rokitansky-Küster-Hauser syndrome: diagnosis and management. Obstet Gynaecol. 2012;14(2):93.
6. Mahey R, Rana A, Cheluvaraju R, Vyas S, Raj R, Bhatla N. An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia- case report and review of literature. J Ovarian Res. 2023 Feb 23;16(1):43.