eMedicine Specialties > Pediatrics: Surgery > Gynecology

Vaginal Atresia: Workup

Author: Amulya K Saxena, MD, Attending Pediatric Surgeon, Department of Pediatric Surgery, Medical University of Graz, Austria
Coauthor(s): Martin I Herman, MD, FACEP, FAAP, Professor, Department of Pediatrics, Division of Critical Care and Emergency Medicine, University of Tennessee Health Sciences Center; President, Pediatric Emergency Services Specialists, PC; Assistant Medical Director of Emergency Services, LeBonheur Children's Medical Center; Elizabeth A Paton, RN, MSN, NP, CS Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Medical Center
Contributor Information and Disclosures

Updated: Dec 11, 2008

Workup

Laboratory Studies

  • Standard evaluation of primary amenorrhea includes an evaluation of hormone levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, estradiol, and progesterone. In 19 patients with vaginal agenesis, Carranza-Lira et al (1999) reported ovarian steroid production at reference levels and, except for absence of menstrual flow, normal pubertal progression.10
  • Evaluation of renal function is prudent because of the association of renal anomalies in as many as one third of patients with Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome.

Imaging Studies

  • Ultrasonography is the cornerstone of imaging in patients with suspected vaginal atresia. Abdominal, pelvic, and transperineal sonograms depict the ovaries, uterus, and proximal vagina. They enable anatomic evaluation of the urinary tract.
  • Although MRI is routinely obtained to further delineate the internal anatomy in patients with vaginal agenesis, MRI may be only 31% sensitive in depicting uterine structures in patients with vaginal agenesis.11
  • Communicate with the radiologist regarding the suspected anatomy to optimize the results of the evaluation.
    • Insertion of a catheter into the urinary tract or identification of the location of the perineal dimple by using a vitamin E capsule may aid anatomic interpretation.
    • Reconstruction of 3-dimensional images of the pelvis may facilitate the surgical procedure, particularly when a proximal vaginal pouch (eg, in transverse septum) or when duplication anomalies of the vaginal tract are present.

Other Tests

  • A karyotype is frequently obtained in the evaluation of complex anomalies. Patients with the most common presentation of vaginal atresia associated with RMKH syndrome typically have a normal 46,XX karyotype.
  • When perineal examination findings indicate ambiguous genitalia that may be the result of androgen insensitivity syndrome (also called testicular feminization), karyotype analysis is essential.
    • In patients with androgen insensitivity syndrome, physical examination may reveal a shallow vaginal pouch, and rectal examination may reveal the absence of a palpable cervix.
    • A 46,XY karyotype is a corroborative finding and should prompt an endocrine evaluation.
    • Young patients with androgen insensitivity syndrome are occasionally identified in the operating room while undergoing repair of an inguinal hernia.

Diagnostic Procedures

  • Invasive procedures are usually unnecessary and should be avoided unless diagnostic radiographic results are inconclusive.
  • Laparoscopy may be necessary to evaluate the uterus and adnexal structures if they are not clearly identified on sonograms or MRIs.
  • Patients with a solitary kidney, who are at risk for vesicoureteral reflux, should undergo voiding cystourethrography to determine the need for antibiotic prophylaxis.

More on Vaginal Atresia

Overview: Vaginal Atresia
Workup: Vaginal Atresia
Treatment: Vaginal Atresia
Follow-up: Vaginal Atresia
References
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References

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Further Reading

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Keywords

vaginal atresia, vaginal agenesis, Rokitansky-Mayer-Küster-Hauser syndrome, RMKH, Rokitansky-Mayer syndrome, Rokitansky syndrome, Rokitansky's syndrome, müllerian agenesis, McKusick-Kaufman syndrome, MKKS, Bardet-Biedl syndrome, BBS, absent vagina, uterovaginal outflow tract obstruction, vaginal obstruction, transverse vaginal septum, müllerian-inhibiting substance, MIS, amenorrhea, hydrometrocolpos, postaxial polydactyly, imperforate anus, congenital heart defects, secondary endometriosis

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Contributor Information and Disclosures

Author

Amulya K Saxena, MD, Attending Pediatric Surgeon, Department of Pediatric Surgery, Medical University of Graz, Austria
Amulya K Saxena, MD is a member of the following medical societies: European Pediatric Surgeons Association, German Society of Pediatric Surgery, German Society of Surgery, and International Pediatric Endosurgery Group
Disclosure: Nothing to disclose.

Coauthor(s)

Martin I Herman, MD, FACEP, FAAP, Professor, Department of Pediatrics, Division of Critical Care and Emergency Medicine, University of Tennessee Health Sciences Center; President, Pediatric Emergency Services Specialists, PC; Assistant Medical Director of Emergency Services, LeBonheur Children's Medical Center
Martin I Herman, MD, FACEP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, and Tennessee Medical Association
Disclosure: Nothing to disclose.

Elizabeth A Paton, RN, MSN, NP, CS Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Medical Center
Elizabeth A Paton, RN, MSN, NP is a member of the following medical societies: American Academy of Nurse Practitioners, American Academy of Pediatrics, Emergency Nurses Association, and Sigma Theta Tau International
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 broker recommendation; Avanir Pharma Stock Investment from broker recommendation

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

H Biemann Othersen Jr, MD, Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina
H Biemann Othersen Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for the Surgery of Trauma, American Burn Association, American Cancer Society, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society for Parenteral and Enteral Nutrition, American Surgical Association, American Thoracic Society, British Association of Paediatric Surgeons, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, South Carolina Medical Association, Southeastern Surgical Congress, Southern Medical Association, Southern Society for Pediatric Research, and Southern Thoracic Surgical Association
Disclosure: Nothing to disclose.

Chief Editor

Maureen Strafford, MD, Arnold P Gold Foundation Associate Professor, Departments of Anesthesiology and Pediatrics, Tufts University and Tufts-New England Medical Center
Maureen Strafford, MD is a member of the following medical societies: American Medical Women's Association, American Pain Society, American Society of Anesthesiologists, International Anesthesia Research Society, Society for Education in Anesthesia, Society for Pediatric Anesthesia, and Society of Cardiovascular Anesthesiologists
Disclosure: Nothing to disclose.

 
 
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