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Vaginal Atresia Workup

  • Author: Amulya K Saxena, MD, PhD; Chief Editor: Andrea L Zuckerman, MD  more...
Updated: Apr 22, 2016

Laboratory Studies

Standard evaluation of primary amenorrhea includes an evaluation of levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, estradiol, and progesterone. In 19 patients with vaginal agenesis, Carranza-Lira et al reported ovarian steroid production at reference levels and, except for absence of menstrual flow, normal pubertal progression.[16] A study of the total testosterone level is one way to differentiate between Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and androgen insensitivity. If the level is in the reference range for males, high for females, it is consistent with androgen insensitivity. Karyotyping should also be performed.

Evaluation of renal function is prudent because of the association of renal anomalies in as many as one third of patients with MRKH syndrome.


Imaging Studies

Communicate with the radiologist regarding the suspected anatomy to optimize the results of the evaluation.[17]

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 so that anomalies can be identified.

Although magnetic resonance imaging (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.[18]

Reconstruction of three-dimensional images of the pelvis may facilitate the surgical procedure, particularly when a proximal vaginal pouch (eg, in the transverse septum) is present 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 MRKH 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. Ambiguous genitalia is not always observed in patients with androgen insensitivity. However, primary amenorrhea and the absence of a vagina are the rule. In some cases, a small blind vaginal pouch is present.

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. Resection of the gonads should be performed in these patients because of their risk of malignant transformation. Treatment options of neovagina creation should be discussed with the patient and the parents.

Androgen insensitivity syndrome is occasionally identified in young patients in the operating room who are undergoing inguinal hernia repair. Inguinal hernias are also common in patients with RMKH syndrome, with ovarian tissue found within the hernia sac rather than testicular tissue, as the müllerian bulbs remain laterally placed in many patients.


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 ultrasonography or MRI.

Patients with a solitary kidney, who are at risk for vesicoureteral reflux, should undergo voiding cystourethrography to determine the need for antibiotic prophylaxis.

Contributor Information and Disclosures

Amulya K Saxena, MD, PhD Consultant Pediatric Surgeon, Department of Pediatric Surgery, Chelsea Children's Hospital, Chelsea and Westminster Healthcare NHS Fdn Trust, Imperial College London, UK

Amulya K Saxena, MD, PhD is a member of the following medical societies: International Pediatric Endosurgery Group, British Association of Paediatric Surgeons, European Paediatric Surgeons' Association, German Society of Surgery, German Association of Pediatric Surgeons, Tissue Engineering and Regenerative Medicine International Society, Austrian Society for Pediatric and Adolescent Surgery

Disclosure: Nothing to disclose.


Elizabeth A Paton, RN, MSN, NP Nurse Practitioner, Pediatric Surgical Group; Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Hospital

Elizabeth A Paton, RN, MSN, NP is a member of the following medical societies: American Academy of Pediatrics, American Association of Nurse Practitioners, Sigma Theta Tau International, Emergency Nurses Association, National Association of Pediatric Nurse Practitioners

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Professor, Department of Emergency Medicine, Mercy St Vincent Medical Center; Chairman, Pediatric Institutional Review Board, Mercy St Vincent Medical Center, Toledo, Ohio

Wayne Wolfram, MD, MPH is a member of the following medical societies: American Academy of Emergency Medicine, American Academy of Pediatrics, Society for Academic Emergency Medicine

Disclosure: Nothing to disclose.

Chief Editor

Andrea L Zuckerman, MD Associate Professor of Obstetrics/Gynecology, 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, Massachusetts Medical Society, North American Society for Pediatric and Adolescent Gynecology

Disclosure: Nothing to disclose.

Additional Contributors

Elizabeth Alderman, MD Director, Pediatric Residency Program, Director of Fellowship Training Program, Adolescent Medicine, 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, Society for Adolescent Health and Medicine

Disclosure: Nothing to disclose.


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: Challenger Corporation Ownership interest Board membership

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