eMedicine Specialties > Pediatrics: Surgery > Gynecology

Mayer-Rokitansky Syndrome: Differential Diagnoses & Workup

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

Differential Diagnoses

5-Alpha-Reductase Deficiency
Androgen Insensitivity Syndrome
Congenital Adrenal Hyperplasia
Hermaphroditism
Müllerian-inhibiting substance deficiency
Turner Syndrome

Other Problems to Be Considered

Müllerian aplasia

Workup

Laboratory Studies

  • Chromosomal analysis is essential to exclude karyotypic abnormalities of the X chromosome (eg, Turner syndrome). Turner syndrome does not cause Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. However, a karyotype is needed to rule out androgen insensitivity syndrome (AIS) because these gonads need to be resected.
  • Other chromosomal aberrations may include a 46,XY karyotype, which suggests a form of AIS.
  • Normal circulating levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) indicate appropriate ovarian function. Human chorionic gonadotropin (hCG) levels are negative and are not checked. Testosterone levels can be assayed and are in the normal female range for Mayer-Rokitansky-Kuster-Hauser syndrome and in the normal male range for AIS.

Imaging Studies

  • Ultrasonography
    • An excellent imaging modality for Mayer-Rokitansky-Kuster-Hauser syndrome, ultrasonography requires no radiation and is noninvasive and inexpensive. Ultrasonography easily depicts the upper level of the vagina and the length of its obstruction.
    • Ultrasonography can also be used to identify uterine duplications and tubal obstruction.
    • Ultrasonography 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 ultrasonography results concerning cavitation of the uterus.
    • MRI improves assessment of subperitoneal structures and detects the presence of a cervix.
    • MRI can be used to image the spine if vertebral anomalies are suspected as can plain films
    • MR urography (MRU) is an excellent imaging modality for visualization of both the reproductive and the urinary anatomy, as well as for function.
  • Laparoscopy
    • Laparoscopy provides only indirect assessment of uterine cavitation. Hysteroscopy (examining inside the endometrial cavity) confirms cavitation; however, MRI is also a great method for this. Laparoscopy is used in patients who also present with abdominal pain to evaluate and possibly resect the müllerian horn.
    • Therapeutic laparoscopic surgery can also be performed in the same setting.
    • Laparoscopy is the preferred procedure when uterine remnants or endometriosis cause cyclic pelvic pain requiring excision.
  • Pyelography
    • Perform intravenous pyelography to assess renal structure.
    • Retrograde pyelography can be used to asses the renal collecting system, and does not require intravenous contrast injection.
    • This technique requires cystoscopy.

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.

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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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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