Mayer-Rokitansky-Kuster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (also referred to as Mayer-Rokitansky syndrome or Rokitansky-Küster-Hauser syndrome) consists of vaginal aplasia with other müllerian (ie, paramesonephric) duct abnormalities. ^[1]  Type I MRKH syndrome is characterized by variable underdevelopment of the vagina and uterus. Type II MRKH also incorporates extragenital/extramüllerian malformations, including vertebral, cardiac, urologic (upper tract), and otologic anomalies. ^[2] Surgical correction of the vaginal anomaly permits normal sexual function and, possibly, reproduction with assisted techniques.

Signs and symptoms

The following may be observed in patients with MRKH syndrome:

• The patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin (ie, primary amenorrhea)
• Patients may report cyclic abdominal pain due to cyclic endometrial shedding without a patent drainage pathway
• Because ovarian function is normal, patients experience all bodily changes associated with menstruation
• Infertility
• Difficulty with intercourse
• Voiding difficulties, urinary incontinence, or recurrent urinary tract infections (UTIs)
• Vertebral anomalies (most commonly scoliosis)

The degree of vaginal aplasia can vary from complete absence to a blind pouch. The more shallow the canal, the greater the likelihood that the patient will have dyspareunia or will be unable to have intercourse.

Physical examination findings are as follows:

• Normal secondary female sexual characteristics are present after puberty
• Height is normal
• Speculum examination of the vagina may be impossible or difficult because of the degree of vaginal agenesis
• The vulva, labia majora, labia minora, and clitoris are normal
• A palpable sling of tissue may be present at the level of the peritoneal reflection

See Presentation for more detail.

Diagnosis

Laboratory studies include the following:

• Chromosomal analysis to exclude karyotypic abnormalities of the X chromosome and androgen insensitivity syndrome (AIS); individuals with complete AIS have female external genitalia but a 46,XY karyotype
• Circulating levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), which are normal in MRKH syndrome, indicating appropriate ovarian function
• Testosterone levels can be assayed and are in the normal female range

Imaging modalities used for MRKH syndrome include the following:

• Ultrasonography (US)
• Magnetic resonance imaging (MRI)
• Laparoscopy
• Pyelography

Ultrasonography

• Easily depicts the upper level of the vagina and the length of its obstruction
• Can also be used to identify uterine duplications and tubal obstruction
• Allows simultaneous assessment of the kidneys and bladder for abnormalities and visualization of some vertebral anomalies

MRI

• Provides excellent images of superficial and deep tissue planes
• Can clarify inconclusive US results concerning cavitation of the uterus
• Improves assessment of subperitoneal structures and detects the presence of a cervix
• Can be used to image the spine if vertebral anomalies are suspected (as can plain films)
• Magnetic resonance urography (MRU) is an excellent imaging modality for visualization of both the reproductive and the urinary anatomy, as well as for function

Laparoscopy

• Used in patients who also present with abdominal pain to evaluate and possibly resect the müllerian horn
• Therapeutic laparoscopic surgery can also be performed in the same setting
• Laparoscopy is the preferred procedure when uterine remnants or endometriosis cause cyclic pelvic pain requiring excision

Pyelography

• Perform intravenous pyelography (IVP) to assess renal structure
• Retrograde pyelography can be used to assess the renal collecting system, and it does not require intravenous contrast injection but does require cystoscopy

See Workup for more detail.

Management

There is no consensus across specialities between nonsurgical versus surgical management for vaginal agenesis. ^[3]  The goal of surgical treatment is to provide the patient with an unscarred vagina that allows sexual functioning. Excision of uterine anlage can also prevent endometriosis and resultant ovarian function impairment. ^{[4, 5]}

Frank procedure or Ingram modification 

• The only nonsurgical option
• The patient creates a neovagina by applying progressive pressure to the perineum, using a bicycle-seat stool to hold a dilator in place  ^[6]
• The technique is self-administered and requires time and patient motivation
• Compliance may be poor in patients with a vaginal dimple or no vagina, because these patients may experience discomfort and abandon the dilator

McIndoe technique

• The most common surgical procedure used for vaginal reconstruction
• A split-thickness skin graft is the most popular tissue for vaginal replacement, with the thigh or buttocks preferable as a graft donor site
• The surgeon uses blunt dissection to create a pocket between the urethra and rectum; a cylindrical stent covered with the skin graft is placed into the potential space, and the graft is fixed into place by attaching cut edges of the skin incision to recreate the introitus; the labia majora are then sutured loosely together to hold in the mold.
• The stent is removed about 1 week later, and the patient uses a mold or dilator in the neovagina every day and night for 3 months, followed by nightly insertion for 3 more months to prevent contraction
• Disadvantages of this procedure include scarring at the donor site, neovaginal stenosis, and the need for long-term dilation

Williams vaginoplasty

• Uses a vulval flap to make a vaginal tube
• Although this simple procedure does not damage the urethra or rectum, dilation is needed for a lengthy period, and the neovagina has a physiologically abnormal angle

Rotational flap procedures

• Use the pudendal thigh, gracilis myocutaneous, labia minora, and other fasciocutaneous flaps
• Disadvantages of these techniques include extensive skin scarring at the donor graft site and the need for patient diligence in postsurgical dilation

Intestinal neovagina

• This technique uses an isolated segment of bowel for vagina
• The isolated segment retains its vascular supply via intact mesentery
• Sigmoid is generally the preferred bowel segment, as it can most easily be mobilized to the perineum in a tension-free manner ^[7] ; patients who have undergone this reconstructive technique report a high degree of satisfaction ^[8]

Vecchietti technique

• Exerts continuous progressive pressure by an acrylic olive passed through the potential neovaginal space and the abdominal wall
• A traction device is placed into the peritoneal cavity and gradually draws the olive upward over a period of days to weeks; this gradually lengthens the vaginal vault
• This technique is now performed laparoscopically ^{[9, 10]}

Wharton-Sheares-George method

• A minimally invasive neovaginoplasty that is relatively simple to perform ^[11]

See Treatment for more detail.