Laboratory Studies
The history and physical examination usually suffice to establish the diagnosis. In rare cases of transverse vaginal septum with microperforation, ascending infection may lead to pyohematometra. Fluid culture is helpful in determining appropriate antibiotic therapy.
If the patient has a blind vaginal pouch and no pubic or axillary hair, karyotyping or measurement of serum testosterone can help establish the diagnosis of androgen insensitivity syndrome.
If the patient has müllerian agenesis with a normal karyotype, screening for other skeletal and urinary anomalies should be considered. Some 30% of these patients have associated renal anomalies, most commonly unilateral renal agenesis. [1]
Imaging Studies
The best first step in the evaluation of these patients is pelvic ultrasonography (US). Transabdominal US usually suffices for visualization of any hematocolpos or hematometra. [17] If this is unclear, transperineal US may be considered, but transvaginal US is not recommended in children, because it is unnecessary and can be emotionally and physically traumatizing. Three-dimensional (3D) US of the pelvis can also be beneficial to reveal additional associated congenital malformations of the uterus or cervix. [10]
In the past, laparoscopy was thought to be the only means of diagnosing müllerian anomalies definitively. Subsequent studies showed, however, that magnetic resonance imaging (MRI) should now be considered the gold standard. [10] Laparoscopy was found to be superior only for diagnosing adnexal abnormalities, [2] but it is still done sometimes to facilitate concurrent resection for endometriosis. MRI should also be done to delineate other associated abnormalities (eg, of the urinary tract or the skeletal system). [18] For patients undergoing surgery, full and accurate assessment of the underlying anatomy is vital; this is carried out via MRI before the operation is performed.
Other common imaging modalities used in the gynecologic setting are saline sonohysterography (SIS) and hysterosalpingography (HSG). These studies require administration of saline or contrast through the cervix into the uterine cavity and therefore cannot be done in patients with obstructive anomalies. SIS and HSG can, however, be useful in diagnosing nonobstructive uterine anomalies—specifically, intracavitary anomalies such as a uterine septum or a bicornuate uterus. [10]
Staging
At present, there is no universal staging system for the various reproductive anomalies. Such a system would be useful to have, especially for surgical planning and clear communication with patients.
A few classification systems have been proposed. The most widely accepted of these is the one developed by the American Society for Reproductive Medicine (ASRM) [1] ; however, because this system focuses on reproductive outcome, it does not include many of the obstructive anomalies discussed in this article, by reason of their limited impact on fertility. A better option for classifying outflow obstructions is the VCUAM (Vaginal Cervix Uterus Adnexa-associated Malformation) system, which includes all structures of the reproductive tract. [19]
