MRKH 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. 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. Surgical correction of the vaginal anomaly permits normal sexual function and, possibly, reproduction with assisted techniques.

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

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

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.

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. 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.

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.

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.

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.

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.

Mayer-Rokitansky-Kuster-Hauser-Syndrome (MRKHS)

Practice Essentials

Management

• Frank technique or perineal dilation
• McIndoe technique
• Williams vaginoplasty
• Rotational flap procedures
• Intestinal neovagina
• Vecchietti technique

Signs and symptoms

Diagnosis

By: DeAnnah Perkins

Epidemiology

Pathophysiology

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. It has been suggested that the pathogenesis of the condition may be multifactorial.

Prognosis

Background