AUTHOR AND EDITOR INFORMATION

Section 1 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Background

Mayer-Rokitansky syndrome (MRK) consists of vaginal atresia with other variable müllerian (ie, paramesonephric) duct abnormalities ([absence of vagina] OMIM 277000). MRK usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. MRK is the second most common cause of primary amenorrhea. Although this condition has psychologically devastating consequences, its physiological defects can be surgically treated. Following diagnosis, surgical intervention allows patients to have normal sexual function. Reproduction may be possible with assisted techniques.

Pathophysiology

Around 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, cervix, and upper 75% 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. A gene responsible for MRK has not been identified.

Frequency

United States

The incidence rate of congenital absence of the vagina is 1 per 4000-5000 female births. MRK is generally a sporadic condition, and female relatives of the patient apparently have no increased risk. However, familial clustering has been reported

Mortality/Morbidity

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

Race

MRK affects all races.

Sex

MRK affects only females.

Age

MRK is a congenital disorder that may remain undiagnosed until adolescence or early adulthood.

CLINICAL

Section 3 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

History

• Primary amenorrhea and cyclic abdominal pain
• • These symptoms are common in individuals with Mayer-Rokitansky syndrome (MRK).
  • The patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin.
  • Patients may report cyclic abdominal pain.
  • Because ovarian function is normal, patients experience all bodily changes associated with menstruation.
• Infertility
• • Patients who do not undergo evaluation for primary amenorrhea often seek clinical attention for infertility.
  • Although the ovaries function normally, the fallopian tubes may be closed, and the uterus is often anomalous.
• Inability to have intercourse
• • 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.
• Renal malformations
• • Absence or ectopia of the kidneys is common. Diagnosis can lead to discovery of renal anomalies.
  • Some patients present with a history of voiding difficulties, urinary incontinence, or recurrent urinary tract infections (UTIs).
• Vertebral anomalies: These skeletal findings generally have no clinical significance.

Physical

• 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.

Causes

• The cause of MRK is unknown, and no known gene is linked to this condition.
• A postulation is that the müllerian duct system ceases development during gestational days 44-48.
• Abnormalities can range from minor anatomic changes to total aplasia.

DIFFERENTIALS

Section 4 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Other Problems to be Considered

Müllerian aplasia

WORKUP

Section 5 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Lab Studies

• Chromosomal analysis is essential to exclude karyotypic abnormalities of the X chromosome (eg, Turner syndrome).
• Other chromosomal aberrations may include a 46,XY karyotype, which suggests a form of androgen insensitivity syndrome (AIS).
• Normal circulating levels of human chorionic gonadotropin (hCG), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) indicate appropriate ovarian function.

Imaging Studies

• Sonography
• • An excellent imaging modality for Mayer-Rokitansky syndrome (MRK), sonography requires no radiation and is noninvasive and inexpensive. Sonography easily depicts the upper level of the vagina and the length of its obstruction.
  • Sonography can also be used to identify uterine duplications and tubal obstruction.
  • Sonography simultaneously allows assessment of the kidneys and bladder for abnormalities and visualization of some vertebral anomalies.
• MRI
• • MRI provides excellent images of superficial and deep tissue planes.
  • MRI can clarify inconclusive sonography results concerning cavitation of the uterus.
  • MRI improves assessment of subperitoneal structures and detects the presence of a cervix.
• Laparoscopy
• • Laparoscopy provides only indirect assessment of uterine cavitation.
  • Laparoscopy is the preferred procedure when uterine remnants or endometriosis cause cyclic pelvic pain requiring excision.
• Pyelography: Perform intravenous pyelography to assess renal structure.
• Radiography: Perform spinal radiography to exclude vertebral anomalies.

Histologic Findings

The uterine anlage may have unilaterally functioning endometrial tissue; bilateral function is rare. Hematometra develops and may lead to endometriosis. The myometrium appears thinner than usual.

TREATMENT

Section 6 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Medical Care

• Although evaluation can be performed on an outpatient basis, surgical repair usually requires admission.
• Medical and surgical care are essential for fertility, capacity for sexual intercourse, and genital appearance.

Surgical Care

The ideal repair provides the patient with an unscarred vagina that allows sexual functioning. Excision of uterine anlage can also prevent endometriosis and resultant ovarian function impairment.

• Frank technique or perineal dilation
• • The only nonsurgical option, this technique is successful only in patients with a long rudimentary vagina. Patients apply progressive pressure to the perineum using a bicycle-seat stool to hold a dilator in place.
  • Because this technique is self-administered, compliance is often poor in patients with a vaginal dimple or no vagina because these patients experience discomfort and abandon the dilator.
• McIndoe technique
• • The most common surgical procedure used for vaginal reconstruction is the McIndoe technique. The technique involves the following steps:
    • A split-thickness skin graft is the most popular tissue for vaginal replacement. Skin from the thigh or upper groin is preferable.
    • Using a blunt dissection, create a pocket between the urethra and rectum.
    • After covering a cylindrical stent with the skin graft, place it into the potential space. Fix the graft into place by attaching cut edges of the skin incision to recreate the introitus.
    • About 1 week later, remove the stent.
    • Have the patient reinsert the stent into 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
• • 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
• • 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.
• Laparoscopy
• • Laparoscopy can create a neovagina with the modified Vecchietti technique.
  • Exert continuous progressive pressure by an acrylic olive passed through the potential neovaginal space and the abdominal wall.
  • Place a traction device into the peritoneal cavity via laparoscopy, which draws the olive upward.

Consultations

• Endocrinologist
• Geneticist
• Orthopedic specialist
• Urologist
• Psychiatrist
• Audiologist

FOLLOW-UP

Section 7 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Further Inpatient Care

• Removal of the rudimentary uterus is suggested if hematometra develops.

Further Outpatient Care

• Monitor how well patients comply with postsurgical dilation regimens.

Complications

• Excessive skin scarring at donor graft site
• Postoperative rectovaginal and urethrovaginal fistulas
• Vaginal discharge and dyspareunia
• Vaginal stenosis
• Inadequate vaginal lubrication
• Poor patient compliance with postsurgical dilation schedule

Prognosis

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

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.
• Genetic offspring are possible through use of a gestational carrier.
• If indicated, refer the patient for psychological counseling to explore gender identity issues.
• For excellent patient education resources, visit eMedicine's Women's Health Center. Also, see eMedicine's patient education articles Amenorrhea and Female Sexual Problems.

MISCELLANEOUS

Section 8 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• Failure to recognize associated renal and skeletal anomalies
• Removal of normal ovaries that prevent biological offspring

Special Concerns

• Mayer-Rokitansky syndrome often remains undiagnosed until adolescence or early adulthood.

REFERENCES

Section 9 of 9

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

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• Oppelt P, Renner SP, Kellermann A, et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod. Mar 2006;21(3):792-7. [Medline].
• Rosenberg HK, Sherman NH, Tarry WF, et al. Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis. Radiology. Dec 1986;161(3):815-9. [Medline].
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Article Last Updated: Feb 20, 2007