Vaginal Atresia Workup

Updated: Nov 09, 2021
  • Author: Amulya K Saxena, MD, PhD, DSc, FRCS(Glasg); Chief Editor: Andrea L Zuckerman, MD  more...
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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. [18]

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 (see below).

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

It is improtant to communicate with the radiologist regarding the suspected anatomy in order to optimize the results of the evaluation. [19]

Ultrasonography (US) is the cornerstone of imaging in patients with suspected vaginal atresia. Abdominal, pelvic, and transperineal sonograms depict the ovaries, uterus, and proximal vagina. [20] 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, [21] Economy et al found that MRI may be only 31% sensitive in depicting uterine structures in patients with vaginal agenesis. [22]

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 MRKH syndrome, with ovarian tissue found within the hernia sac rather than testicular tissue, as the müllerian bulbs remain laterally placed in many patients.



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 US or MRI.

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