eMedicine Specialties > Pediatrics: Surgery > Gynecology

Mayer-Rokitansky Syndrome

Author: Andrew J Kirsch, MD, FAAP, FACS, Clinical Professor of Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; President, Georgia Urology, PA
Coauthor(s): Jonathan D Kaye, MD, Fellow in Pediatric Urologic Surgery, Department of Urology, Emory University School of Medicine; Suzanne M Carter, MS, Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine; Susan J Gross, MD, FRCS(C), FACOG, FACMG, Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine
Contributor Information and Disclosures

Updated: Mar 9, 2009

Introduction

Background

Mayer-Rokitansky-Kuster-Hauser (MRKH) 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 Mayer-Rokitansky-Kuster-Hauser 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. Mayer-Rokitansky-Kuster-Hauser syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. Mayer-Rokitansky-Kuster-Hauser syndrome 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

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, cervix, and 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. Although Mayer-Rokitansky-Kuster-Hauser syndrome was previously thought to be a sporadic anomaly, 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

Frequency

United States

The incidence of congenital absence of the vagina is 1 per 4000-5000 female births. Mayer-Rokitansky-Kuster-Hauser syndrome is generally 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.

Mortality/Morbidity

Mayer-Rokitansky-Kuster-Hauser syndrome has psychological consequences, but its physiological defects are surgically treatable. Surgical correction permits normal sexual function and, possibly, reproduction with assisted techniques.

Race

Mayer-Rokitansky-Kuster-Hauser syndrome has no racial predisposition.

Sex

Mayer-Rokitansky-Kuster-Hauser syndrome only affects females.

Age

Mayer-Rokitansky-Kuster-Hauser syndrome is a congenital disorder that is present at birth. However, it may remain undiagnosed until adolescence or early adulthood.

Clinical

History

The following may be observed in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome:

  • Primary amenorrhea and possible cyclic abdominal pain
    • These symptoms are common in individuals with Mayer-Rokitansky-Kuster-Hauser syndrome.
    • The patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin.
    • 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 and puberty.
  • Infertility
    • Patients who do not undergo evaluation for primary amenorrhea often seek clinical attention for infertility. However, patients rarely proceed to infertility evaluation without ever having had a menses due to Mayer-Rokitansky-Kuster-Hauser syndrome.
    • 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: Skeletal findings range in severity and clinical importance. Scoliosis is the most common of the skeletal anomalies.

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 Mayer-Rokitansky-Kuster-Hauser syndrome 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.

More on Mayer-Rokitansky Syndrome

Overview: Mayer-Rokitansky Syndrome
Differential Diagnoses & Workup: Mayer-Rokitansky Syndrome
Treatment & Medication: Mayer-Rokitansky Syndrome
Follow-up: Mayer-Rokitansky Syndrome
References
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References

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  2. Morcel K, Guerrier D, Watrin T, Pellerin I, Leveque J. [The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: clinical description and genetics]. J Gynecol Obstet Biol Reprod (Paris). Oct 2008;37(6):539-46. [Medline].

  3. Hensle TW, Chang DT. Vaginal reconstruction. Urol Clin North Am. Feb 1999;26(1):39-47, vii. [Medline].

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  5. Fedele L, Bianchi S, Frontino G, Fontana E, Restelli E, Bruni V. The laparoscopic Vecchietti's modified technique in Rokitansky syndrome: anatomic, functional, and sexual long-term results. Am J Obstet Gynecol. Apr 2008;198(4):377.e1-6. [Medline].

  6. Acien P, Lloret M, Chehab H. Endometriosis in a patient with Rokitansky-Kuster-Hauser syndrome. Gynecol Obstet Invest. 1988;25(1):70-2. [Medline].

  7. Blask AR, Sanders RC, Rock JA. Obstructed uterovaginal anomalies: demonstration with sonography. Part II. Teenagers. Radiology. Apr 1991;179(1):84-8. [Medline].

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  12. Folgueira G, Perez-Medina T, Martinez-Cortes L, et al. Laparoscopic creation of a neovagina in Mayer-Rokitansky-Küster-Hauser syndrome by modified Vecchietti's procedure. Eur J Obstet Gynecol Reprod Biol. Aug 2006;127(2):240-3. [Medline].

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  15. Griffin JE, Edwards C, Madden JD, et al. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med. Aug 1976;85(2):224-36. [Medline].

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Further Reading

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Keywords

Mayer-Rokitansky syndrome, MRK anomaly, Rokitansky-Küster-Hauser syndrome, RKH syndrome, RKH, vaginal atresia, Von Mayer-Rokitansky anomaly, Von Mayer-Rokitansky-Küster anomaly, MRK syndrome, MRK, Mayer-Rokitansky-Küster-Hauser syndrome, müllerian duct abnormalities, OMIM 277000, primary amenorrhea, wolffian ducts, mesonephric ducts, congenital absence of the vagina, dyspareunia, vaginal agenesis, vaginal aplasia, amenorrhea, urinary tract infections, UTIs

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Contributor Information and Disclosures

Author

Andrew J Kirsch, MD, FAAP, FACS, Clinical Professor of Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; President, Georgia Urology, PA
Andrew J Kirsch, MD, FAAP, FACS is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, and Society for Fetal Urology
Disclosure: QMED Grant/research funds Investigation, Consulting

Coauthor(s)

Jonathan D Kaye, MD, Fellow in Pediatric Urologic Surgery, Department of Urology, Emory University School of Medicine
Jonathan D Kaye, MD is a member of the following medical societies: American Medical Association, American Urological Association, and Endourological Society
Disclosure: Nothing to disclose.

Suzanne M Carter, MS, Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine
Suzanne M Carter, MS is a member of the following medical societies: American Bar Association
Disclosure: Nothing to disclose.

Susan J Gross, MD, FRCS(C), FACOG, FACMG, Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine
Susan J Gross, MD, FRCS(C), FACOG, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Medical Association, American Society of Human Genetics, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Elizabeth Alderman, MD, Director of Fellowship Training Program, Director, Adolescent Ambulatory Service, Clinical Professor, Department of Pediatrics, Division of Adolescent Medicine, Albert Einstein College of Medicine and Montefiore Medical Center
Elizabeth Alderman, MD is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, North American Society for Pediatric and Adolescent Gynecology, and Society for Adolescent Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Wayne Wolfram, MD, MPH, Clinical Associate Professor, Departments of Pediatrics, Children's Hospital and University of Cincinnati
Wayne Wolfram, MD, MPH is a member of the following medical societies: American Academy of Emergency Medicine, American Academy of Pediatrics, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Andrea L Zuckerman, MD, Assistant Professor of Obstetrics/Gynecology and Pediatrics, Tufts University School of Medicine; Division Director, Pediatric and Adolescent Gynecology, Tufts Medical Center
Andrea L Zuckerman, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, Association of Professors of Gynecology and Obstetrics, Massachusetts Medical Society, North American Society for Pediatric and Adolescent Gynecology, and Society for Adolescent Medicine
Disclosure: Nothing to disclose.

 
 
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