The diagnosis of Müllerian agenesis is confirmed via imaging techniques. Abdominal ultrasonography will demonstrate the lack of uterus and existence of ovaries. The presence of a midline mass consistent with a blood collection usually indicates an obstructive Müllerian anomaly. The distinction between Müllerian agenesis and obstruction is extremely important since an incorrect diagnosis can seriously jeopardize appropriate management.

With the advent of magnetic resonance imaging (MRI), laparoscopy is no longer considered necessary to make this diagnosis (◘ Fig. 26.1). Typical findings in the pelvis include normal ovaries and fallopian tubes and usually small Müllerian remnants attached to the proximal portion of the fallopian tubes that may be solid or have functioning endometrial tissue.

Direct communication with the radiologist about the differential diagnosis prior to imaging studies is important. On occasion, the unsuspecting radiologist may interpret the small uterine remnants as a uterus. Careful attention to the very small dimensions of this structure will alert the physician to this possibility.

The diagnosis, usually made in early adolescence, must be explained to the patient with great sensitivity. At a time when being like her peers is extremely important, knowledge of this diagnosis can be psychologically devastating. Each patient must be reassured that her external genitalia appear normal and that they will be able to have a normal sex life after the creation of a normally functioning vagina. Although usually not voiced, the inability to subsequently bear children is a major disappointment to teenagers. Fortunately, with ART procedures, including IVF and surrogacy, having her own genetic child will be an option for many of these young women.

The first goal of treatment of Müllerian agenesis is the creation of a functional vagina to allow intercourse. Frank first proposed vaginal dilatation with the use of a dilator as a means of creating a neovagina in 1938 [20]. However, the surgical techniques of vaginoplasty remained the preferred methods for many years. The success of any technique depends in large part on the emotional maturity of the patient. Pretreatment counseling and continued support during treatment are important.

The simplicity and ease of vaginal dilation and its significantly lower complication rate than surgical techniques dictate its use as an initial form of therapy for most patients with Müllerian agenesis. The American College of Obstetrics and Gynecology has released a committee opinion that recommends nonsurgical management of Müllerian agenesis as the first mode of treatment [21].

Frank’s technique of dilation involves actively placing pressure with the dilators against the vaginal dimple (◘ Fig. 26.2). Not only the patient is in an awkward position but the hand applying the pressure can become tired. In 1981, Ingram proposed the concept of passive dilation, where pressure is placed upon the dilator by sitting on a bicycle seat [22].

Roberts reported a success rate of 92% in women who dilated the vagina via the Ingram technique for 20 min 3 times a day [23]. The average time of the creation of a functional vagina was 11 months. This series demonstrated that an initial dimple <0.5 cm was all that was necessary to achieve adequate dilation. Interestingly, failure of this technique was not related to the length of vaginal dimple but rather more closely associated with the patient’s youth. Failure of this technique was more common in patients younger than 18 years of age.

When the patient expresses a desire to proceed with therapy, she is shown the exact location of her vaginal dimple. The axis of dilator placement is also demonstrated (◘ Fig. 26.3). The process is initiated by placement of the smallest dilator against the dimple. Pressure is kept upon the distal aspect of the dilator by sitting upon a stool while leaning slightly forward. When the dilator fits comfortably, she moves to the next size dilator. The patient is instructed to use this technique a minimum of 20 min a day, 2–3 times a day. In motivated patients, a functional vagina can be created in as short as 12 weeks.

Counseling and psychological support is integral to successful treatment [24–26]. Patients are requested to return to the office frequently so that the physician can monitor their progress, and provide guidance and an opportunity to answer questions. Intercourse may be attempted when the largest dilator fits comfortably.

Multiple types of graduated dilators, made of various materials, are present on the market. None have been found superior to the others. Patients may stop and reinitiate the dilation at any time without any negative long-term sequelae. Although most patients appear interested in initiating this therapy the summer before college, when they are mature enough and motivated to create the vagina, the timing of therapy is purely dependent on the patient’s desires. The median age of starting treatment is 17 years of age. For appropriately selected motivated patients, the reported success rates are as high as 95% [27].

The first step in this procedure is to laparoscopically observe placement of an applicator through the perineum and the vesicorectal septum into the peritoneal cavity. Attached to this applicator are threads that are tied to a dilator otherwise known as a “dummy.” Two curved applicators are placed through the abdominal wall and guided down retroperitoneally on the right and left side walls until the needle tip approaches the midline threads. These threads are then loaded via laparoscopic graspers into these applicators and gently withdrawn through the abdominal wall. The threads are connected to a traction device and placed under tension. When the threads are tightened the dummy is pulled and within days a vaginal cavity is created. The duration of canal formation is about 4.5 days, thus patients do need to be under analgesia as the dummy is being pulled into the vesicovaginal space. The average length of vagina created in such a manner is 9 cm. Patients must continue to use the dilator after the full vaginal length is developed.

Brucker and colleagues have reported on a series of 240 patients with a success rate of 98% [31]. Very few operative complications were reported and included bladder hematoma, urethral necrosis, and urinary tract infections. Several smaller studies have been reported by other surgeons using the Vecchietti laparoscopic technique with similar outcomes [32–34].

The traditional surgical management of vaginal agenesis is to create a vaginal space followed by placement of a lining to prevent stenosis. Multiple tissues and at least one man-made material have been used to line this cavity with varying degrees of success in preventing subsequent stenosis of the neovagina (◘ Table 26.2).

The most widely used surgical technique for the creation of a neovagina is the McIndoe operation. The first step of the procedure is obtaining the split-thickness skin graft. The plastic surgery team typically acquires the skin graft from the buttock area, a location usually covered by clothing. The patient is placed in the prone position and the site is cleansed with an antiseptic solution and then soaked with an epinephrine saline gauze to allow vasoconstriction of small punctuate bleeding sites. Mineral oil is applied to the donor site and the skin is held taught while the electrodermatome device is used to obtain a thick split-thickness skin graft. The skin graft should be 0.015–0.018-in. thick. After application of antiseptic solution, the donor site is covered with OpSite, which is fixed in place by several stitches. Within 2–3 weeks the area heals with acceptable scarring.

The skin graft is placed through a 1:5 ratio skin mesher. The purpose of meshing the skin is not to stretch the skin but rather to allow escape of any underlying blood clots or serous fluids. This skin graft is sutured around the mold with 4–0 absorbable suture (◘ Fig. 26.4). The mold is covered completely because any uncovered sites, whether due to lack of enough tissue or a gaping hole in the line of suture, tend to result in the formation of granulation tissue. Thus, great care must be taken to obtain sufficient amount of graft for this procedure.

The patient is placed in the dorsolithotomy position . A transverse incision is made in the vaginal vestibule, between the rectum and urethral openings (◘ Fig. 26.5). In a patient who has not had prior surgery or radiation in the area, areolar tissue is now encountered. This tissue is easily dissected with either fingers or a Hegar dilator on either side of a median raphe (◘ Fig. 26.6). The dissection is continued for at least the length of the mold without entering the peritoneal cavity. By cutting the median raphe, the two channels are then connected. If the dissection is performed in this manner, minimal amount of bleeding is encountered. Any bleeding sites must be controlled meticulously to avoid lifting of the graft from the newly created vaginal wall and subsequent nonadherence and necrosis.

After creation of the vaginal space, the mold covered with the skin graft is placed inside the cavity (◘ Fig. 26.7). At the introitus, the skin graft is attached with several separate 3–0 absorbable stitches. To hold the mold in place, several loose, nonreactive sutures, such as 2–0 silk, are used to approximate the Labia minor in the midline.

During the ensuing week, the patient is maintained on bed rest, broad-spectrum antibiotics, a low-residue diet, and an agent to decrease bowel motility. She also has an indwelling urinary catheter. Upon return to the operating room in 1 week, the mold is carefully removed. The graft site is carefully assessed for any signs of necrosis or underlying hematoma after the vaginal cavity is irrigated with warm saline. Another soft mold is then reinserted and kept in place for the next 3 months except during defecation and urination. Nighttime usage of the mold is recommended for the next 6 months. To prevent contracture of the vagina, the patient is instructed to reinsert the mold during extended times of sexual inactivity.

Difficulty in dissecting the neovagina and increased probability of bleeding and fistula formation are encountered in the patient with a prior surgical procedure. Other problems that may be encountered include narrow subpubic arch, strong levators, shorter perineum, prior hymenectomy, and congenitally deep cul-de-sac [35, 36].

Because of concern regarding tissue necrosis from mold pressure and subsequent fistula formation, both rigid and soft molds have been used for this procedure (◘ Figs. 26.8 and 26.9). Theoretically, soft molds decrease the risk of fistula formation that can result from avascular necrosis. A soft mold can be created by covering a foam rubber block with a condom [36]. The foam is able to expand and fit the neovaginal space, thereby providing equal pressure throughout the canal. However, a report on the use of a rigid mold on 201 patients who underwent the McIndoe operation demonstrated a fistula formation rate of less than 1% [37]. There is no study comparing the outcomes of soft vs. rigid molds in this operation. Typically, a rigid mold is used initially, but the patient is sent home with a soft mold in place.

An 80% success rate has been reported with this procedure [38]. Since success rates are highest in those patients who have not undergone prior vaginoplasty, patients must be counseled extensively prior to surgery regarding the need for prolonged use of the mold. Indeed, part of the presurgical assessment involves determination of patient maturity and motivation concerning the use of dilators. Lack of compliance with the postoperative use of dilators will lead to contracture and diminishment of vaginal length.

Surgical complications include postoperative infection and hemorrhage , failure of graft and formation of granulation tissue, and fistula formation. In general, the incidence of complications is low: rectal perforation rate of 1%, graft infection of 4%, and graft-site infection of 5.5% [37]. In a review of 50 patients, two rectovaginal fistulas and one graft failure were reported [35]. Five patients required an additional operative procedure. Eighty-five percent of these patients considered their surgery to be a success.

Long-term data on the McIndoe procedure , while limited, consistently indicate an improvement in quality of life. In a series of 44 patients who underwent a surgical procedure to create the vagina, 82% achieved a functional satisfactory postoperative result [39]. Vaginal length varied from 3.5 cm to 15 cm. In another long-term study of women who underwent a McIndoe procedure, 79% of the patients reported improved quality of life, 91% remained sexually active, and 75% regularly achieved orgasm [40].

The newly created vagina must be inspected at the time of the yearly pelvic examination. Hair growth has been reported to be a problem with some skin grafts. Transformation to squamous cell carcinoma from skin graft has been described [41, 42].

Use of the peritoneum to line the newly created vaginal space was popularized by Davydov, a Russian gynecologist, and first described by Rothman in the USA in 1972 [43–45]. In his original description, a laparotomy is performed after creation of the vaginal space as described above with the McIndoe operation.

A cut is made on the peritoneum overlying the new vagina. Long sutures are applied to the anterior, posterior, and lateral sides of this peritoneum. The sutures are then pulled down through the vaginal space, thus pulling the peritoneum to the introitus. The edge of the peritoneum is then stitched to the mucosa of the introitus. Closing the peritoneum on the abdominal side then forms the top of the vagina. Several investigators have also described the laparoscopic modification of this procedure [46, 47].

This procedure may have several advantages compared to the traditional McIndoe. Contrary to skin grafts that leave visible scarring at the donor site, there is no outward sign of using a graft in the Davydov procedure. There appears to be no danger of lack of graft takes and no problem with hair growth.

In Davydov’s first reported series, sexual intercourse was initiated within several weeks of surgery in all but 1 of his 30 patients. On follow-up, the length of the vagina was noted to be 8–11 cm. In a series of 18 patients who underwent the laparoscopic modification of this procedure, 85% reported being sexually satisfied during an 8–40-month follow-up. Although there was one report of a rectovaginal fistula 18 months after the surgery, there was no evidence of vault prolapse or enterocele formation. Minor granulation tissue was noted at the vaginal cuff, but the vault was primarily covered with squamous epithelium tissue.

Jackson first described the use of an adhesion barrier to line the neovagina in 1994 [48]. Oxidized regenerated cellulose (INTERCEED; Johnson and Johnson Patient Care Inc., New Brunswick, NJ) forms a gelatinous barrier on raw surfaces and thus prevents adhesion formation. After creation of the vaginal space, sheets of cloth-like oxidized regenerated cellulose are wrapped around the mold and placed in the vagina in a manner similar to the McIndoe. The neovaginal space must be free of any bleeding. Epithelialization is noted to occur within 3–6 months. Small areas of granulation tissue may be seen at the apex of the vagina and resolve after application of silver nitrate. Average vaginal depth ranges from 6 cm to12 cm. Continuous use of mold is encouraged until complete epithelialization has occurred.

A case series assessed the outcome of this technique on 10 patients with vaginal agenesis [49]. Complete squamous epithelialization was noted within 1–4 months. When compared to a normal vagina, fern formation was noted and the vaginal pH was always acidic. However, none of the women complained of vaginal dryness or foul-smelling discharge. Patients who were sexually active did not report any problems.

The advantages of the use of oxidized regenerated cellulose include avoidance of any scars, readily available product, and low expense. In addition, the surgical procedure is simplified into a one-stage procedure. Although the reported data appear encouraging, confirmatory studies are required before the use of oxidized regenerated cellulose can be recommended without any reservations.

Buccal mucosa has been used by urologist for several decades in urethral reconstruction and repair of complex hypospadias. It was first reported for use in vaginoplasty in 2003 [50]. Some of the properties that make this an excellent graft choice are: thick elastic lubricating epithelium, thin lamina propria, and same color and texture match to native vagina. In addition the harvest site is hidden and heals very quickly. Once the perineal space is created, the buccal mucosa from both cheeks is harvested, placed over a vaginal stent, and then sown into the new space. Postoperative vaginal lengths have measured 8–10 cm in length and 4–5 cm in width [51].

The first case in which in vitro cultured vaginal tissue was utilized to line the neovagina was published in 2007 [52]. A 1-cm² biopsy was performed from the vulvar vestibule. Autologous keratinocyte cultures were created from this biopsy. The McIndoe procedure was utilized to create the vaginal space, and the autologous in vitro cultured tissue was used to line the cavity. The length of the vagina is reported to be normal, as is its depth. Of course, long-term data are currently lacking, as is information on vaginal stenosis. But if proven to be effective, this method of creating a vagina may lead to the increasing popularity of the McIndoe procedure, given the lack of concomitant scars on the skin.

These approaches are not procedures of choice for women with vaginal agenesis. However, they may be used for those who require vaginal reconstruction after exposure to radiation or multiple surgical procedures. The advantage of using a full-thickness skin flap is that it avoids the problem of contracture encountered with split-thickness grafts.

The use of gracilis myocutaneous flaps and rectus abdominus myocutaneous flaps for vaginal reconstruction has been reported [53, 54]. This approach has been associated with a conspicuous scar and a higher failure rate. Wee and Joseph in Singapore designed flaps that maintained good blood supply and innervation [55]. Known as a “pudendal-thigh flap vaginoplasty ,” this technique has been particularly successful in patients with vulvar anomalies [56].

The patient’s own labia majora and Labia minora have also been used to create a vagina [57]. Tissue expansion has also been advocated to create labiovaginal flaps, which are then used to line the neovagina [58, 59]. Other modifications of this procedure have been reported [60, 61].

This is not a procedure of choice in women with vaginal agenesis. For this procedure, also known as a colocolpopoiesis, a portion of large bowel with its preserved vascular pedicle is sutured into the neovagina. In recent years, sigmoid colon use has been recommended.

Continuous use of dilators is not considered necessary, although constriction has been noted when ilium has been used. Success rates of up to 90% have been reported. Reported complications include profuse vaginal discharge, prolapse, introital stenosis, bowel obstruction, and colitis [62, 63]. Finally, there is a report of a mucinous adenocarcinoma arising in a neovagina lined with the sigmoid colon [64].

A laparoscopic modification of this procedure has also been described [65, 66]. Given the increased complication rates, it seems appropriate to reserve this treatment modality for complex situations in which a prior vaginoplasty technique has failed or when there are multiple urogenital malformations.

Patients with Müllerian agenesis commonly have Müllerian remnants noted on MRI or during a laparoscopy. The MRI has the added value of determining if any endometrial tissue exists within these remnants (◘ Figs. 26.10 and 26.11). Patients with functional endometrial tissue may present after many asymptomatic years with cyclic pelvic pain secondary to monthly endometrial shedding, and development of endometriosis has been reported in these patients. Symptomatic Müllerian bulbs should be removed either via laparotomy or laparoscopy.

The procedure is started by placing traction on the ipsilateral uterine bulb. The round ligament is grasped and cut and the peritoneum incised anteriorly, thereby creating a bladder flap. The retroperitoneal space is entered, the ureters identified, and the utero-ovarian ligaments transected. The dissection continues with identification and coagulation of the uterine arteries. Finally, the uterine remnants and the fibrous tissue connecting them are incised.