Mayer-Rokitansky Syndrome 

  • Author: Andrew J Kirsch, MD, FAAP, FACS; Chief Editor: Andrea L Zuckerman, MD   more...
 
Updated: Mar 9, 2009
 

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.

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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, 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]

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Epidemiology

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.

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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.

Specialty Editor Board

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.

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

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.

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.

References

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