If functioning endometrial tissue is present with the anlagen, then symptoms from cryptomenorrhea will begin shortly after female secondary sex characteristics develop. Prompt removal of the active uterine bulbs affords complete relief of symptoms.

Occasionally, older patients with the classic MRKH syndrome consult a gynecologist because of difficult or painful intercourse. The indication for operation in these patients is obvious. Of all patients, they are the most satisfied with the operative results.

Most commonly, patients aged 14 to 16 years are seen by a gynecologist because of primary amenorrhea. An examination may not have been performed by a previous physician because the patient was “too young,” but various hormonal medications may have been given with the hope that menstruation would begin. An inaccurate examination may have led to the mistaken diagnosis of imperforate hymen. Futile attempts to incise the hymen may have resulted in scarring of the apex of the vaginal dimple before a correct diagnosis of congenital absence of the vagina was finally made. In the past, it was customary to advise delaying surgery to create a vagina for these young patients until just before their marriage. More recently, it has become usual to perform the procedure when patients are 17 to 20 years old and are emotionally mature and intellectually ready to manage the potential postoperative requirements for care, including manipulation of the vaginal form or the use of dilators.

Insufficient attention has been given to the psychological aspects of this problem. The patient with congenital absence of the vagina cannot be made into a whole person simply by creating a perineal pouch for intercourse. Establishment of sexual function is only one concern and may be the easiest problem to correct. Evans reported that 15% of his patients have real psychiatric difficulty. He and David and associates suggest that psychiatric help should be initiated before the treatment to create a neovagina. Weijenborg and ter Kuile described the effect of a group program on women with Rokitansky syndrome. The authors held group sessions conducted by a gynecologist, a female social worker, and a woman with Rokitansky syndrome. Seventeen patients participated. Three women had elected not to create a vagina, six women created a vagina by dilatation or sexual activity, and eight women had undergone a vaginoplasty. Indices of psychological distress were measured before the program, at initiation of the program, and at the last group session. The results demonstrated that women with Rokitansky syndrome felt less anxious, less depressed, and less sensitive to interpersonal contact after participation in the semistructured program. These data support the value of group interaction in patients with Rokitansky syndrome.

Learning about this anomaly, especially at a young age, is a shock and is accompanied by diminished self-esteem. Such patients can be encouraged by having their gynecologist offer appropriate psychological and medical therapy with an experienced multidisciplinary team. The gynecologist can also point out that the patient will functionally be like other young women who have had a hysterectomy because of serious pelvic disease and who have satisfied their desire to be a parent through adoption or gestational surrogacy. When receiving this diagnosis, patients and families are looking for reassurance about the future. Liao and colleagues reported on women with Rokitansky (treated with dilation, no treatment, or surgery) who completed four questionnaires assessing health-related quality of life, emotional distress, and sexual function and underwent a vaginal examination. Of the 87 eligible participants, 56 (64%) took part in the study. Thirty-six women had used dilators in the past, and 7 (who were sexually active) had undergone vaginal surgery (laparoscopic Vecchietti 4, McIndoe 1, bowel 1, skin flap vaginoplasty 1). The range of time from surgery to participation in the study was 5 to 16 years. Twelve patients had no intervention to create a neovagina. The participants reported overall better physical health and poorer overall mental health compared with normative data. Anxiety levels were higher, especially for women who had treatment to create a neovagina (dilation or surgical treatment). Vaginal length had a positive correlation with overall sexual satisfaction but was not related to overall quality of life. Kimberley and colleagues in Australia reported on quality of life and sexual experience of patients with vaginal atresia or agenesis. Seventy patients were identified, but nine were excluded who were younger than 17 years, newly diagnosed, or developmentally delayed. Thirty-four women responded with 28 actual participants in the study. Of the 20 patients who completed the sexual satisfaction questionnaire, only four were treated surgically (Sheare procedure 3, McIndoe 1) and the remaining 16 created a neovagina with dilation. The quality-of-life outcomes as measured by the World Health Organization Quality of Life (WHOQOL-BREF) questionnaire showed overall quality of life to be comparable to that of the average Australian population. In addition to quality-oflife evaluation, psychosocial assessment is important as well. There was a strong correlation between the quality-of-life scores and sexual satisfaction, highlighting the importance of psychological and psychosocial supports in the management of young women affected by the condition. Time since diagnosis had a positive influence on overall sexual satisfaction, with 92% of women who received a diagnosis more than 5 years ago demonstrating satisfactory sexual function scores. Callens and her colleagues in the Belgian-Dutch Study Group on Disorder of Sex Development (DSD) attempted to evaluate the psychosexual and anatomical outcomes of patients after dilation or surgery to create a neovagina; however, only 7 of the 35 participants were noted to have a diagnosis of MRKH (all treated with skin graft neovaginoplasty). Of those patients, only two were examined to correlate the anatomic findings with the psychosexual responses. All of the patients completed at least some part of the Female Sexual Function Index (FSFI), a validated measure in the vaginal reconstruction population, with the mean score of 25.0, which falls below the 26.55 cutoff, implying that they are at risk for developing sexual dysfunction. The authors acknowledged that their population was not randomized for treatment, was recruited exclusively from a clinical sample, and may have been biased by including patients who created a sufficient vagina by coitus alone with those that followed a dilation program. Regardless, their results support that any treatment for vaginal hypoplasia may be of limited utility without psychological expertise to address other aspects of self-perception. More work in the
area of overall quality of life, well-being, and emotional/sexual wellness is needed in this population.

When counseling patients, gestational surrogacy should definitely be included in the discussion. Until recently, the literature had provided only sparse evidence regarding the use of this modality in this population. Beski and colleagues confirmed the use of gestational surrogacy in a small population. The treatment cycles resulted in six clinical pregnancies (42.9% pregnancy rate per embryo transfer and 54.5% per oocyte retrieval) and three live births (21.4% per embryo transfer, 27.3% per retrieval, and 50% per patient). Several authors have reported on the genetic offspring of patients with vaginal agenesis. Petrozza and colleagues reported a retrospective study in 1997, describing a large number of treatment cycles for patients with Rokitansky syndrome. The authors attempted to determine an inheritance pattern of the syndrome through a questionnaire sent to all centers performing surrogacy treatment in the United States. A total of 162 in vitro fertilization/surrogacy treatment cycles were reviewed for 58 patients with congenital agenesis of the uterus and vagina. The treatment resulted in 34 live births (17 girls, 17 boys). One child had a nonspecific middle ear defect and hearing loss. The authors concluded that congenital absence of the uterus and vagina was not commonly inherited in a dominant fashion. These findings suggest that inheritance of this disorder in children of affected mothers is likely via a polygenic mechanism. In this population, none of the 17 female infants born to affected mothers exhibited Rokitansky syndrome. Ovulation induction is similar to other patients; however, oocyte retrieval may be more challenging. Typically, oocytes are retrieved transvaginally; yet, after creation of a neovagina, the ovaries may not be as easily accessible. In addition, ovaries may be ectopically located, higher in the abdomen. Barton and colleagues reported success with a transabdominal approach without decrease in safety or efficacy. Five of the sixty-nine women who underwent abdominal follicular aspiration were noted to have congenital reproductive anomalies.

Regardless of which operative technique is chosen, the patient must cooperate if the operation is to be successful. In many of the available vaginal reconstruction techniques, dilation or use of a vaginal mold will be necessary. For example, when a McIndoe operation is performed, patients must understand the need to wear a form continuously for several months and intermittently for several years until the vagina is no longer subject to constriction and until regular intercourse is taking place. No surgery should be performed until preoperative evaluation determines that the patient understands her essential role in its success. This is especially important when the patient is a younger teenager. The single most important factor in determining the success of vaginoplasty is the psychosocial adjustment of the patient to her congenital vaginal anomaly.

In 1907, Baldwin used a double loop of ileum to line a space dissected between the rectum and bladder, leaving the mesentery connected to the bowel. The continuity of the intestinal tract was reestablished by an end-to-end anastomosis. He reported that the new vagina was absolutely normal in every way. In 1910, Popaw constructed a vagina using a portion of the rectum that was moved anteriorly. This operation was modified by Schubert in 1911. The rectum was severed above the anal sphincter and moved anteriorly to serve as the vagina. The sigmoid was sutured to the anus to reestablish the continuity of the intestinal tract. Both operations had soberingly high morbidity and mortality rates, and their popularity declined. Today, segments of sigmoid are used most often to create a vaginal pouch or extend vaginal length in patients who have lost vaginal function as a result of extensive surgery or irradiation for pelvic malignancy. Some patients who are treated for multiple genitourinary or gastrointestinal abnormalities may be treated with a bowel vaginoplasty during a combined procedure.

Less formidable procedures involving dissection of a space between the bladder and rectum and lining of this space with flaps of skin from the labia or inner thighs also were tried. Marked scarring resulted, and hair usually grew in the vagina. Extensive plastic procedures to construct a vagina are no longer necessary or desirable and have been discarded in favor of safer procedures unless there is the problem of maintaining a vaginal canal after an extensive exenterative operation for pelvic malignancy. In this case, the physician may want to consider using the gracilis myocutaneous flap technique described by McCraw and associates in 1976.

This operation for creating a new vagina began with simple surgical attempts to create a space between the bladder and the rectum. These early attempts were often made in patients with cryptomenorrhea. However, such a space usually would constrict because the surgeon would fail to recognize the importance of prolonged continuous dilatation until the constrictive phase of healing was complete.

At the Johns Hopkins Hospital in 1938, Wharton combined an adequate dissection of the vaginal space with continuous dilatation by a balsa form that was covered with a thin rubber sheath and was left in the space. He did not use a split-thickness skin graft. Instead, he based his operation on the principle that the vaginal epithelium has remarkable powers of proliferation and in a relatively short time will cover the raw surface. Recalling that a similar process occurs in the fetus when the epithelium of the sinovaginal bulbs and the urogenital sinus form the vaginal canal, Wharton merely applied this same principle in the adult. This simple procedure is entirely satisfactory as long as the space is kept dilated long enough to allow the epithelium to grow in. Occasionally, however, even after several years, the vault of the vagina remains without epithelial covering. Coital bleeding and leukorrhea result from the persistent granulation tissue, and there is a tendency for vaginas constructed by this method to be constricted by scarring in the upper portion. In Counseller’s 1948 report from the Mayo Clinic of 100 operations to construct a new vagina, 14 were performed by the Wharton method, with excellent results in all 14 patients. It was stated that the disadvantages of persistent granulation tissue with bleeding and leukorrhea were of no consequence. This has not been the experience of the editors of this book.

When inlay skin grafts were first used to construct a new vagina, the results were poor because the necessity for dilatation of the new vagina again was not recognized. Severe contraction, uncontrolled by continuous or intermittent dilatation, almost invariably spoiled the results. Although Abbe and others preceded him by many years in using a skin-covered prosthesis in neovaginal construction, it was Sir Archibald McIndoe, at the Queen Victoria Hospital in England, who popularized the method and gave it substantial clinical trial. He emphasized the three important principles used today in successful operations for vaginal agenesis:

Other tissues such as amnion and peritoneum have been used to line the new vaginal space, but they have not had substantial success. However, Tancer and associates reported good results with human amnion. Karjalainen and associates stated that a more physiologic result was achieved with an amnion graft than with a skin graft. Nevertheless, concerns about the transmission of human immunodeficiency virus with human amnion now limit this option.

Construction of a perineal bridge to help contain the vaginal mold was a routine part of the operation described by McIndoe, but it was not adopted subsequently by others. However, Williams described a similar vulvovaginoplasty procedure in 1964 and advised that it could be used to create a vaginal canal (Fig. 25.9). In 1976, he reported that the procedure was unsuccessful in only 1 of 52 patients. Feroze and coworkers reported that the anatomic results were good in 22 of 26 patients. According to these authors, the advantages of the Williams operation are its technical simplicity, its absence of serious local complications even when performed as a repeat procedure, the ease of postoperative care, the absence of postoperative pain, the speed of recovery, the possible elimination of dilators and consequent applicability to patients who do not intend to have regular intercourse in the near future, and the higher success rates of primary and repeat procedures. The technique is not applicable to patients with poorly developed labia. It does result in an unusual angle of the vaginal canal, which is reported to straighten to a more normal direction with intercourse. If a very high perineum is created, urine can momentarily collect in the pouch after urination, giving the impression of postvoid incontinence. Failure of the suture line to heal by primary intention results in a large area of granulation tissue and most likely an unsatisfactory result.

Williams believes that if the urethral meatus is patulous, a vulvovaginoplasty should not be performed because the urethra might be stretched further by coitus. He suggests that varying deficiencies in muscular and fascial tissue can explain
why some patients with uterovaginal agenesis are able to develop a satisfactory vaginal canal with simple intermittent pressure with coitus, whereas others are prone to develop enteroceles.

The Williams vulvovaginoplasty is a useful operation and should certainly be considered the operation of choice for patients needing a follow-up to an unsatisfactory primary operation to create a neovagina or a supplement to a small vagina resulting from extensive surgery or radiation therapy, when options are limited. It remains an option for the rare patient with a solitary kidney low in the pelvis who does not have room for dissection of an adequate vaginal space.