When a Mullerian duct anomaly is suspected, imaging is essential for diagnosis and management and to direct reproductive counseling. As mentioned above, there is a spectrum in presentation due to anatomic variation known to occur with Class I reproductive tract anomalies. Vaginal agenesis is usually accompanied by cervical and uterine agenesis [10, 12]. However, in 10% of cases, a rudimentary Mullerian structure is identified, which can be functional (endometrial layer present) or nonfunctional (endometrial layer absent) [10]. A functional uterine remnant can present with chronic cyclic pain due to obstruction of the outflow tract. A pelvic ultrasound (US) is often the initial imaging study of choice, although the transvaginal approach is typically not utilized in this population. A transabdominal or transperineal ultrasound can be obtained instead; however, magnetic resonance imaging (MRI) is the study of choice due to its high accuracy, detailed delineation of anatomy, noninvasive nature, and lack of ionizing radiation exposure to the patient [10]. Evaluation of a uterine remnant may be difficult with US due to the limited acoustic ultrasound window. In contrast, MRI can differentiate between uterine agenesis versus hypoplasia (remnant) [10] quite readily. Among patients with pelvic pain, MRI is the gold standard to evaluate anatomic variants [5, 8]. Pelvic MRI is also useful for the preoperative detection of MRKH-associated malformations in order to help optimize clinical and/or surgical management of patients with MRKH [11]. Once the diagnosis of vaginal agenesis is confirmed, a karyotype may be ordered to rule out 46XY sexual differentiation.

Besides delineating the reproductive anatomy, it is also important to evaluate other systems that might be affected. A renal US and spine radiograph should be ordered because of the possibility of associated anomalies. In addition to approximately one-third of type II MRKH patients having urinary tract abnormalities, an estimated 12% have skeletal anomalies mostly involving the spine [6]. Although the most common associated anomaly in MRKH is unilateral renal agenesis, a pelvic kidney is sometimes seen [8]; other abnormalities include ectopic kidney, horseshoe kidney, and abnormal collecting ducts [6].

Strategies for managing this condition range from nonsurgical to surgical options and really depend upon patient readiness. Once a diagnosis is made, some patients will need time to consider when they would like to further discuss options for neovagina creation and fertility options . This readiness is variable and may be dependent on their ability to discuss their diagnosis with a counselor, psychologist, family members, or similarly affected peers [3, 6, 10, 12].

The majority of patients (90%) will respond to a nonsurgical approach using progressive vaginal dilation with perineal dilators [1, 5, 7, 9, 13]. There is variation in terms of the length of time it takes one to create a neovagina as more consistent use will result in improved vaginal lengthening . There are many strategies experts have recommend for improving vaginal dilation techniques, including the use of lubricants, estrogen creams, relaxation, and a warm bath or shower prior to dilation, all designed to help improve tissue pliability and reduce vaginismus. There is no set length that a patient must reach as a vaginal length may range from 6 to 10 cm but is primarily related to what she is comfortable with. Regardless of consistency with dilation, some patients may require surgical intervention if desired to increase the total vaginal length [1, 5, 7, 9, 13]. A variety of surgical techniques have been described with long-term outcomes varying depending on the technique utilized but can include the use of tissue grafts, as well as laparoscopic and open approaches. One study involving 240 patients with MRKH undergoing vaginoplasty via laparoscopic Vecchietti procedure is the largest series looking at outcomes in patients with regard to sexual function, HPV acquisition, and clearance and postoperative complications [14]. This study demonstrated that over a median timeframe of 16 months, all patients maintained a mean total vaginal length of 9.5 cm. There were no long-term complications other than granulation tissue in 2.9% of patients, and sexual function was maintained in all patients. Another interesting finding was that the mean time to HPV acquisition was similar to that of all women , and approximately 2.9% of women in this study were shown to have acquired HPV once they initiated intercourse within 3–6 months [14]. No single technique is necessarily the best way in which to approach vaginal lengthening as it is most important that the surgeon has expertise in the surgical management and individualizes for each patient [1, 5, 7, 9, 13].