Introduction

MRKH syndrome is a congenital anomaly characterized by aplasia of uterus and upper two-thirds of vagina in females with normal ovarian function and 46, XX karyotype. It occurs in approximately 1 in 4,500 to 5,000 females [1].

It is classified as Type 1- isolated Mullerian agenesis and Type 2- associated with other organ anomalies like renal, vertebral, and to a lesser extent, auditory and cardiac defects.

These patients present with primary amenorrhea, short or absent vaginal canal with normal external genitalia and secondary sexual characteristics. The condition can be diagnosed on ultrasound or MRI and can be treated by creating a neovagina by surgical or non-surgical means to enable normal sexual functions.

Figure 1: Ultrasound image of Patient with MRKH showing normal abdominal viscera but absent uterus and cervix

Figure 2: Preoperative image of vaginal dimple.

As the patient was keenly interested in sexual activity, with the patient’s counselling and consent, McIndoe Vaginoplasty was performed. The blind pouch was dissected, creating a canal of approximately 9cm in length. A mould of about 9cm was prepared with autoclaved sponges and covered with a condom. A split thickness skin graft harvested from the anteromedial aspect of the thigh was lined into the neovaginal space using a mould. Postoperatively patient was kept on strict bed rest on a water bed, immobilised. At most care was taken to avoid any activity which increases intraabdominal pressure, viz, coughing or straining. She was catheterised for 10 days and was on a liquid diet for 7 days. On the 6^th post-operative day, about 70-80% graft acceptance was achieved, and a new mould was placed into the neovagina. On 8th post operative day the mould was removed and a vaginal canal of ~9cm was achieved. On discharge patient was advised self dilatation with vaginal dilators and abstainence from intercourse till 6 months. On follow-up visits patient showed satisfaction. The patient started sexual activity after 6 months with satisfaction.

Discussion

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome occurs due to defective Mullerian duct fusion during embryonic development. [2] Type I MRKH syndrome is characterized by variable underdevelopment of vagina and uterus. Type II MRKH also incorporates extragenital / extramüllerian malformations, which include vertebral, cardiac, urologic (upper tract), and otologic anomalies.[3] MRKH syndrome usually remains undetected until patient presents with primary amenorrhea despite normal female sexual development. Differentials include XY disorders of sexual development, Androgen insensitivity syndrome, imperforate hymen, congenital adrenal hyperplasia, etc.

The diagnosis is by involves a combination of physical examination, pelvic imaging (ultrasound or MRI), and sometimes chromosomal analysis.

Patients can benefit by creating a neovagina by surgical or non-surgical methods. Non surgical methods mainly include Frank technique using vaginal dilators (78% success rate) [4] Surgical methods include McIndoe vaginoplasty, Williams vaginoplasty, Intestinal neovagina, Vecchietti technique etc.