Mayer-Rokitansky Syndrome Clinical Presentation

  • Author: Andrew J Kirsch, MD, FAAP, FACS; Chief Editor: Andrea L Zuckerman, MD   more...
 
Updated: Mar 5, 2012
 

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.
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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.
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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.
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Contributor Information and Disclosures
Author

Andrew J Kirsch, MD, FAAP, FACS  Clinical Professor of Urology, Chief of Pediatric Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; Partner, 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: Nothing to disclose.

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 of Adolescent Ambulatory Service, Professor of Clinical Pediatrics, Department of Pediatrics, Division of Adolescent Medicine, Albert Einstein College of Medicine and Children's Hospital at Montefiore

Elizabeth Alderman, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, North American Society for Pediatric and Adolescent Gynecology, and Society for Adolescent Medicine

Disclosure: Merck Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Wayne Wolfram, MD, MPH  Associate Professor, Department of Emergency Medicine, Mercy St Vincent Medical Center

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.

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