Mayer-Rokitansky-Kuster-Hauser Syndrome

Updated: Apr 08, 2016
  • Author: Andrew J Kirsch, MD, FAAP, FACS; Chief Editor: Andrea L Zuckerman, MD  more...
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Overview

Practice Essentials

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 an isolated absence of the proximal two thirds of the vagina, whereas type II is marked by other 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 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 of the patient having dyspareunia or inability 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
  • 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 ultrasonography 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)
  • MR 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 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

The goal of 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. [3, 4]

Frank technique or perineal dilation

  • 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
  • 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 [5] ; patients who have undergone this reconstructive technique report a high degree of satisfaction [6]

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 [7]

See Treatment for more detail.

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Background

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] Its penetrance varies, as does the involvement of other organ systems. Type I MRKH syndrome is characterized by an isolated absence of the proximal two thirds of the vagina, whereas type II is marked by other malformations; these include vertebral, cardiac, urologic (upper tract), and otologic anomalies. [2]

In both types, the extent of vaginal aplasia varies, ranging from virtually absent to virtually inconsequential. MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. MRKH syndrome is the second most common cause of primary amenorrhea.

MRKH syndrome has psychological consequences, but its physiologic defects are surgically treatable. Surgical correction permits normal sexual function and, possibly, reproduction with assisted techniques.

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Pathophysiology

At approximately 5 weeks' gestation, the müllerian ducts stop developing. The skeleton, which is derived from the embryonic mesoderm, is vulnerable to developmental disturbances at this time. The uterus, the cervix, and the upper two thirds of the vagina form from the fused caudal ends of the müllerian ducts. Fallopian tubes develop from the unfused upper ends; the renal system simultaneously develops from the wolffian (ie, mesonephric) ducts. Ovarian function is preserved because the ovaries originate within the primitive ectoderm, independent of the mesonephros.

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Etiology

A postulation is that the müllerian duct system ceases development during gestational days 44-48, for reasons yet to be fully elucidated. MRKH syndrome was previously thought to be a sporadic anomaly, but familial cases support the hypothesis of a genetic etiology and are receiving increased attention. Although the precise gene has not yet been identified, this syndrome appears to be transmitted in an autosomal dominant fashion, with incomplete penetrance and variable expressivity. [2]  It has been suggested that the pathogenesis of the condition may be multifactorial. [8]

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Epidemiology

The incidence of congenital absence of the vagina is 1 per 4000-5000 female births. As noted, MRKH syndrome has generally been thought to be a sporadic condition, and female relatives of the patient apparently have no increased risk; however, familial clustering is reported with increasing frequency.

MRKH syndrome is a congenital disorder that is present at birth but may remain undiagnosed until adolescence or early adulthood. It only affects females, and no racial predisposition has been identified.

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Prognosis

The patient may have normal sexual functioning after surgical reconstruction. However, surgical reconstruction does not establish the ability to conceive through natural means. Conception cannot occur without the aid of assisted reproductive techniques.

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Patient Education

To achieve optimal results, stress compliance with a home dilation schedule.

Thoroughly discuss the embryonic development of the reproductive system with the patient if the patient is interested and is able to use the information.

Because the ovaries in a patient with MRKH syndrome are normal, genetic offspring are possible through the use of a gestational carrier.

If indicated, refer the patient for psychological counseling to explore gender identity issues.

For patient education resources, see the Women's Health Center, as well as Amenorrhea and Female Sexual Problems.

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