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eMedicine Specialties > Pediatrics: Surgery > Gynecology

Vaginal Atresia

Amulya K Saxena, MD, PhD, Associate Professor, Department of Pediatric and Adolescent Surgery, Medical University of Graz, Austria
Martin I Herman, MD, FACEP, FAAP, Professor, Department of Pediatrics, Division of Critical Care and Emergency Medicine, University of Tennessee Health Sciences Center; President, Pediatric Emergency Services Specialists, PC; Assistant Medical Director of Emergency Services, LeBonheur Children's Medical Center; Elizabeth A Paton, RN, MSN, NP, CS Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Medical Center

Updated: Mar 2, 2010

Introduction

Each examination of a newborn should include an inspection of the genitalia, as absence of the vagina or atresia could be detected during this simple evaluation. Vagina atresia and agenesis are congenital anomalies of the female genitourinary tract and may occur as an isolated developmental defect or as part of a complex of anomalies. Examples of some of these associations include the Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome, Bardet-Biedl syndrome, Kaufman-McKusick syndrome, Fraser syndrome, and Winters syndrome. Delayed detection is common and can result in major risk to the female patient because of associated urinary tract anomalies. Early detection is possible if healthcare providers include a genital examination as part of their well-child examination.

Isolated vaginal atresia is an extremely rare finding. Most cases occur as müllerian agenesis or are associated with the more common RMKH syndrome (see Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome for full details).

History of the Procedure

The original clinical contributions by Rokitansky, Mayer, Küster, and Hauser are credited in the eponymous syndrome most commonly associated with vaginal agenesis. Mayer provided the early description of this condition in stillborn infants with multiple birth defects, Rokitansky and Küster contributed to an understanding of the disorder by identifying the absence of the uterus despite normal ovaries and normal external genitalia, and Hauser reported the frequent association with renal and skeletal anomalies. The syndrome is variably termed RMKH syndrome, Rokitansky-Mayer syndrome, or, simply, Rokitansky syndrome.

Surgical management of vaginal atresia has been described in the European literature since the turn of the century. In the United States, Baldwin was the first to describe construction of a neovagina using an intestinal graft. As the technique became popular, the potential for clinically significant morbidity and mortality became evident. In 1940, Masson reported 2 deaths, which provided the impetus to consider the skin-graft technique McIndoe and Counsellor first reported.

Problem

Vaginal atresia is a congenital defect resulting in uterovaginal outflow tract obstruction. Vaginal atresia occurs when the caudal portion of the vagina, contributed by the urogenital sinus, fails to form. This caudal portion of the vagina is replaced with fibrous tissue. In 1998, the American Society for Reproductive Medicine classified the uterine anatomic types as müllerian anomalies or vaginal anomalies. According to this classification system, vaginal atresia is an anomaly classified as type I, which refers to agenesis and hypoplasia of the uterus.[1 ]As a consequence, vaginal atresia is occasionally termed müllerian agenesis.

The most common clinical presentation of type I müllerian anomalies is vaginal or müllerian agenesis, which occurs in conjunction with an absent uterus, termed RMKH syndrome. Renal anomalies, which may include unilateral agenesis of the kidney, ectopic kidneys, horseshoe kidney, and crossed-fused ectopia, occur in 30% of patients with RMKH syndrome. Associated skeletal anomalies may include anomalies found in Klippel-Feil syndrome (ie, aberrations of cervicothoracic somite development), which manifest as fused vertebrae or other variants. Anomalies of the ribs and limbs are also encountered.

Variants of vaginal atresia, formerly called partial vaginal agenesis, are more correctly classified as variants of a transverse vaginal septum. These variants and other developmental variants, such as obstructed duplications of the uterovaginal tract, occur on the basis of other pathophysiologic events and should be treated as separate entities.

Frequency

Vaginal atresia is estimated to occur in 1 in 5000-10,000 live female births. The anomaly is often undetected until adolescence, when primary amenorrhea or abdominal pain due to an obstructed uterovaginal tract prompts a diagnostic evaluation.[2 ]Vaginal atresia is reported to be the second most common cause of primary amenorrhea in tertiary care centers.[3 ]

Transverse vaginal septum, formerly called partial vaginal agenesis, is relatively uncommon, with a reported incidence of 1 in 70,000 females.[4 ]

Etiology

The specific molecular mechanisms leading to failure of vaginal development have not been elucidated. Multiple developmental pathways share a critical event that may promote or interfere with normal development. Evidence suggests that these regulating factors may involve paracrine or autocrine signals and alterations in the anlage or matrix of the developing organs.

A pattern of genetic transmission has not been documented and has been refuted by the discordant occurrence of vaginal atresia in 3 pairs of monozygotic twins. Patients with RMKH syndrome and vaginal atresia are phenotypically and genotypically female with a 46,XX karyotype. However, a familial association suggests autosomal dominant transmission of a mutant gene by male relatives.[5 ]

Etiologic factors that Knab implicated in defective organogenesis include the following:[5 ]

  • Inappropriate production of müllerian-inhibiting substance (MIS) in the female embryonic gonad
  • Regional absence or deficiency of estrogen receptors in the lower müllerian duct structures
  • Arrest of müllerian duct development by a teratogenic agent
  • Mesenchymal inductive defect
  • Sporadic gene mutation

Pathophysiology

Normal reproductive organ development in male and female individual requires the timely coordination of 3 discrete but interdependent systems, namely, the gonadal structures, the internal ductal system, and the external genitalia.

In the female embryo, the absence of testes and the consequent absence of both androgens and MIS allow ongoing development and differentiation of the müllerian duct system with regression of the wolffian ducts. The müllerian duct is identifiable by 6 weeks' gestation in both male and female individuals. This duct elongates and reaches the urogenital sinus by 9 weeks' gestation, thus forming the uterovaginal canal. The 2 müllerian ducts proceed caudad to cephalad to the uterine fundus and fuse. Bilateral endodermal invaginations (ie, sinovaginal bulbs) form as the müllerian tubercles regress. Cephalic growth of the sinovaginal bulb is completed at 15-26 weeks' gestation, and fusion of the sinovaginal bulb with the vaginal cord forms the vaginal plate.

Although controversy surrounds the development of a patent genital tract, canalization of the uterovaginal canal is believed to occur from the caudal to the cephalic aspect, with an epithelial lining derived from the urogenital sinus. Vaginal development is completed by 5 months' gestation. Mesenchyme surrounding these structures develops into the musculature of the genital tract. Cephalic remnants of the müllerian duct form the fallopian tubes. Given this developmental scheme, pathophysiologic events resulting in a septate uterus can be attributed to failure of the septum to regress between the fused müllerian ducts. Arcuate, bicornuate, or didelphic uteri can be attributed to incomplete fusion of the müllerian ducts.

Uterovaginal atresia in patients with RMKH syndrome is best explained by the failure of the caudal development of the müllerian ducts. Failures at the level of the vaginal plate may explain the variants of transverse vaginal septum. Although the vagina is embryologically derived from structures of both the müllerian and urogenital sinuses, how much each anlage contributes to final normal development remains unclear.

Presentation

The clinical presentation of vaginal atresia varies and is primarily related to an association with other anomalies of the genitourinary tract. The diagnosis can be made at any time between the perinatal period and adolescence. Clinical signs and symptoms in the neonate include an abdominal mass, sepsis, and respiratory distress. However, most neonates with vaginal atresia are asymptomatic, and palpation of an abdominal mass during the first few weeks of life or an abnormal result on ultrasonography screening frequently raises suspicion of the diagnosis. Findings in adolescents may include abdominal pain, difficulty voiding, and backache, but most present with amenorrhea. Adults have difficulty with penovaginal intercourse and infertility. If any of these symptoms are present, an evaluation for vaginal obstruction should be performed, in addition to assessment of the renal system.[6 ]

Although findings may not suggest vaginal atresia in an infant with RMKH syndrome, a distended uterus may prompt close evaluation in a patient with isolated vaginal atresia under the influence of maternal estrogens. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia.

Malformations of the female genital tract have been grouped into the following 5 categories:[7 ]

  • Agenesis or hypoplasia of the entire uterine ridge
  • Mesonephric abnormalities
    • Missing wolffian duct that opens into the urogenital sinus
    • Lack of sprouting of the ureteral bud
    • Failing of the inductor function of the wolffian duct on the müllerian duct
  • Isolated müllerian abnormalities
    • Abnormalities of müllerian ducts, which lead to uterine malformations, such as unicornuate (generally with a uterine rudimentary horn), bicornuate, septate, and didelphys uteri
    • Abnormalities of the müllerian tubercle, which lead to cervicovaginal atresia and segmentary anomalies (eg, transverse vaginal septum)
    • Abnormalities of both the müllerian tubercle and ducts (eg, unilateral or bilateral RMKH syndrome)
  • Anomalies of the urogenital sinus (eg, cloacal anomalies)
  • Malformative combinations (eg, wolffian, müllerian, and cloacal anomalies)

When evaluating vaginal atresia–associated syndromes other than RMKH, the physician should consider the overlap among the 4 primary differential diagnoses. These diagnoses have significantly different implications for long-term outcomes. The differential diagnoses are as follows:

  • In McKusick-Kaufman syndrome, an autosomal recessive disorder, vaginal atresia is associated with hydrometrocolpos, postaxial polydactyly, imperforate anus, and congenital heart defects. The patient still has secondary sexual characteristics.
  • Bardet-Biedl syndrome is a genetically heterogeneous group of autosomal recessive disorders. Vaginal atresia in Bardet-Biedl syndrome is associated with retinal dystrophy or retinitis pigmentosa (appears at age 10-20 y), postaxial polydactyly, obesity, nephropathy, and mental disturbances.
  • If eye anomalies are seen in conjunction with vaginal atresia, Fraser syndrome should be considered.[8 ]
  • If ear anomalies are seen in conjunction with vaginal atresia, Winters syndromes should be considered.[9 ]

Caution is advised in definitively diagnosing McKusick-Kaufman syndrome in infancy because the features that later define Bardet-Biedl syndrome may not be apparent. The absence of these features may lead to false reassurance in the diagnosis.[10,11 ]

During adolescence, various presentations can lead to a diagnosis of vaginal atresia. As with other conditions that produce an obstructed vaginal tract, primary amenorrhea, cyclic abdominal pain, or the development of an abdominopelvic mass prompts medical evaluation. Other presenting symptoms include the inability to use tampons or dyspareunia in cases of partial vaginal atresia.

Physical examination is a fundamental component of the workup, but the findings are often inadequate to establish a definitive diagnosis. Perineal examination may reveal normal external genitalia with the appropriate development of secondary sex characteristics in the adolescent. On evaluation of the introitus, an isolated vaginal dimple or a small vaginal pouch with a normal hymenal ring may be seen. These features do not allow the examiner to distinguish the myriad of internal variants. In other patients, features of ambiguous genitalia are evident in neonates and infants. Complete radiographic evaluation is warranted.

Indications

Treatment options for vaginal agenesis include creation of a neovagina. Nonsurgical creation using Frank dilators is the best first-line approach. Patients use the dilators, increasing in length and diameter, with spandex underwear as they sit on a stationary racing bicycle seat for 30-120 minutes/day. This process uses pressure to create the vagina. Care must be taken to avoid dilating the urethra.

If this treatment option fails, surgical intervention should be considered.

In the patient with functional ovarian tissue but an absent uterus and vagina, reconstruction of the genital tract is not medically urgent. In the absence of ambiguous genitalia, gender assignment is not an issue, and involving the patient in the decisions regarding future surgery is prudent. Girls who are offered the McIndoe operation require a certain level of psychological and sexual maturity to be motivated and compliant with the dilation (mold) regimens necessary for a successful outcome. Surgical intervention is usually delayed until the late teens so the patient is mature enough to comply with postoperative care. Surgical or medical intervention must be started sooner than this if a patient presents with vaginal outflow obstruction, abdominal or pelvic pain, or a risk for secondary endometriosis.

The primary goals of surgical intervention in patients with vaginal atresia are to relieve obstruction and pain, to restore a normal sex life, and to preserve the patient's reproductive potential. The timing of surgery depends on the patient's anatomic configuration and on the presence or absence of functional endometrial tissue.

Relevant Anatomy

Vaginal reconstruction techniques may be required in numerous congenital disorders. The choice of operation and outcome critically depend on correct identification of the underlying disorder. Three basic categories of anomalies must be distinguished: vaginal agenesis and its variants, ambiguous genitalia, and imperforate anus and urogenital sinus variants. Optimal medical and surgical management require familiarity with these conditions.

A female infant with a normal perineum has bilateral labial mounds. Readily identifiable discrete structures include clitoral tissue at the most anterior aspect of the introitus, a urethral opening, and a hymenal ring. The anal opening normally is located midway between the posterior confluence of the labia and the tip of the coccyx. Labial fusion may obscure the anatomy of some patients but is not a suggestive finding unless the fusion is posterior and the clitoris is enlarged anteriorly. This configuration suggests congenital adrenal hyperplasia.

The differential diagnosis of ambiguous genitalia and the defects of hindgut development should be considered in the presence of clinically significant anatomic variations. The variant features commonly encountered with ambiguous genitalia include rugal folds over the labia, a mass in an apparent labia, and excess clitoral tissue. Features suggestive of anorectal and genitourinary tract malformations include a urogenital sinus (one common vaginal and urethral opening) with a normal anal opening, an anterior anal opening (imperforate anus with perineal fistula), or a cloacal malformation (only one shared vaginal, urethral, and anal opening).

Contraindications

The decision to perform surgery to correct vaginal atresia must be made in the context of the patient's overall condition. If a patient has a lethal or complex congenital anomaly that might complicate anesthesia or surgical management, reconstruction of the uterovaginal outflow tract should be carefully considered. Alternative decompression or resection techniques may be preferable. Patients with clinically significant neurodevelopmental delay should be reevaluated for anatomic reconstruction within the context of future sexual maturation. A complex perineal reconstruction that does not improve a patient's daily function and that requires the use of postoperative dilators could be imprudent because of physical and psychological trauma.

Workup

Laboratory Studies

  • Standard evaluation of primary amenorrhea includes an evaluation of hormone levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin, estradiol, and progesterone. In 19 patients with vaginal agenesis, Carranza-Lira et al (1999) reported ovarian steroid production at reference levels and, except for absence of menstrual flow, normal pubertal progression.[12 ]A study of the total testosterone level is one way to differentiate between MRKH 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.
  • Evaluation of renal function is prudent because of the association of renal anomalies in as many as one third of patients with Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome.

Imaging Studies

  • Ultrasonography is the cornerstone of imaging in patients with suspected vaginal atresia. Abdominal, pelvic, and transperineal sonograms depict the ovaries, uterus, and proximal vagina. They enable anatomic evaluation of the urinary tract so that anomalies can be identified.
  • Although MRI is routinely obtained to further delineate the internal anatomy in patients with vaginal agenesis, MRI may be only 31% sensitive in depicting uterine structures in patients with vaginal agenesis.[13 ]
  • Communicate with the radiologist regarding the suspected anatomy to optimize the results of the evaluation. Reconstruction of 3-dimensional images of the pelvis may facilitate the surgical procedure, particularly when a proximal vaginal pouch (eg, in transverse septum) 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 RMKH 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.

Diagnostic Procedures

  • 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 sonograms or MRIs.
  • Patients with a solitary kidney, who are at risk for vesicoureteral reflux, should undergo voiding cystourethrography to determine the need for antibiotic prophylaxis.

Treatment

Medical Therapy

The role of medical management of vaginal atresia is limited. In patients with functioning endometrium and an obstructed outflow tract, temporary hormonal manipulation of the menstrual cycle may be necessary until a patent genital tract can be created. Most patients with functional endometrial tissue do not have a fully functioning uterus. In patients who have a patent cervix an absent vagina (very rare), creation of a neovagina will allow for outflow of the menstrual blood. On the other hand, the creation of a cervix in patients without a patent cervix is associated with a very high rate of infection and mortality. Therefore, most patients with some functioning endometrium in the müllerian bulb need to undergo bulb resection.

In 1938, Frank described a nonsurgical technique developed especially for patients with Rokitansky-Mayer-Küster-Hauser (RMKH) syndrome.[14 ]In this clinical situation, absence of the uterus and proximal vaginal tract obviates complex reconstructive operations. The goal is to create a blind-ending vaginal pouch. The technique involves forceful dilation of a shallow rudimentary vaginal pit with the sequential application of progressively wider and longer dilators. In 1980, Hendren and Donahoe reported that 7 of 8 patients treated with this technique achieved a pouch within 2-4 months.[15 ]In another study, vaginal dilation was attempted in 37 of 51 patients with vaginal agenesis, with a 92% success rate.[16 ]

Success depends on the presence of at least a vaginal dimple and requires a highly motivated patient who, wishing to avoid extensive surgical procedures, is willing to continue long-term dilation. Problems of stenosis, dyspareunia (20%), and decreased vaginal lubrication have made this option unattractive for many patients.

Surgical Therapy

As for other congenital anomalies, the multiple reconstructive options available for vaginal reconstruction indicate that no single technique has gained uniform approval.[17,18 ]Pediatric surgeons, gynecologists, and plastic surgeons have traditionally contributed to the literature on the subject, and specialists in each field continue to be involved in the treatment of patients with vaginal atresia. A multidisciplinary approach is recommended to best meet the challenge of providing good cosmetic results with optimal functional and reproductive outcomes.

The various surgical approaches can be classified according to the tissues used to create a neovagina. Reconstruction involves the use of extra-abdominal tissues or tissues from the abdominal cavity.

Reconstruction by using extra-abdominal tissues

Split-thickness skin grafts are the basis for many reconstructive procedures, such as the Abbe-McIndoe operation. With this procedure, a split-thickness skin graft is taken from the buttock and used to create the neovagina. Afterward, a mold is inserted to shape the vagina. Advantages are related to the low morbidity and mortality rates of this type of reconstruction. Disadvantages include the tendency to develop vaginal stenosis, the lack of natural lubrication, the possible development of fistulas, and the need for continuous mold placement if the vagina is not used.

Musculocutaneous flaps provide a reliable means of creating a neovagina.[19 ]Although they provide a sensate surface, they are bulky. The rectus and gracilis muscles are the primary muscle groups used. As with fasciocutaneous and subcutaneous pedicled flaps, operations involving these flaps tend to cause scarring and use hair-bearing skin.[20 ]Bilateral flaps have been used to create a neovagina for vaginal atresia, but they are primarily reserved for reconstruction after ablative oncologic surgery. A unilateral flap is often appropriate for reconstruction after repair of rectoneovaginal fistulas or urethral defects.

In vulvovaginoplasty, tissue expanders are used to increase the available skin from the labia. This tissue is used to create a posteriorly directed pouch. Functional assessment reportedly has yielded unsatisfactory results. Several groups report the use of amnion as a homograft, without evident rejection. This technique maintains a vaginal space for future dissection, but it has not gained wide acceptance.

Reconstruction by using tissues of the abdominal cavity

Intestinal segments, typically derived from the sigmoid colon,[21,22 ]may provide advantages over the skin grafts used in the Abbe-McIndoe operation, as the former do not routinely require postoperative dilation. Sections of the ileum, cecum, and rectosigmoid colon have also been used. The advantages are principally related to the distensibility and self-lubricating nature of the conduit and the reduced natural contraction resulting in neovaginal stenosis, which allow the patient to avoid the discomfort of long-term use of dilators. Disadvantages are related to the potential complications encountered in laparotomy and bowel resection and to the continuous production of mucous secretions that may require the use of an absorptive pad or tampon.

The peritoneum has been used to maintain a cavity until the surfaces become epithelialized.

Laparoscopic Vecchietti procedure is gaining acceptance in the management of vaginal atresia.[23 ]This procedure aims to create a neovagina by invagination by using an acrylic olive that is placed against the vaginal dimple. The olive is attached to a traction device mounted on the abdomen with laparoscopically placed subperitoneal sutures. Then, traction is applied to the olive to produce 1-1.5 cm of invagination per day, creating a neovagina in approximately 7-9 days. After the neovagina is created, active dilation is required until regular sexual activity is started.

One advantage of this technique over the Frank procedure is that uninterrupted traction is applied. In addition, prolonged hospitalization is unnecessary because the traction can be completed on an outpatient basis. However, this is a relatively new technique, and the long-terms results have yet to be reported.

Another laparoscopic approach is an adaptation of the Davydov procedure. This technique is characterized by a 3-stage operation that includes dissection of the rectovesical space, abdominal mobilization of the peritoneum to create the vaginal fornices, and attachment of the peritoneum to the introitus. With use of the laparoscopic approach, the abdominal end of the neovagina is closed with a purse-string suture. This laparoscopically assisted operation lowers the rate of intraoperative complications, shortened operating times and hospital stays, and minimizes external scars. After surgery, sexual function (composite score for desire, arousal, lubrication, orgasm, satisfaction, pain) approaches that of matched controls without gynecologic disorders.

At present, no consensus has been reached regarding the ideal method for creating a functional vagina. At present, the most common operation is McIndoe vaginoplasty. Relatively noninvasive laparoscopic surgery seems promising. However, additional data about results and long-term complications are required for it to gain general acceptance.

Preoperative Details

Psychological preparation of the patient is paramount. A well-established patient-physician relationship must be established.

Standard mechanical and antibiotic bowel preparation is appropriate when colon resection is contemplated for vaginal reconstruction. When extra-abdominal tissues are used for reconstruction, preoperative use of enemas may be prudent to evacuate the rectum. Perioperative antibiotics should be provided.

Intraoperative Details

Abbe-McIndoe operation

With the patient in the lithotomy position, an H -shaped or Z -shaped incision is made on the perineum. Sharp and blunt dissection of the tissues interposed between the urinary tract and the rectum results in a cavity 10-12 cm in length. A Foley catheter in the urethra guides the dissection away from this structure. The proximity to the rectum is best gauged by placing an examining finger or Hegar dilator in the rectum.

A split-thickness skin graft is harvested from the inner thigh or buttocks prior to the perineal incision. Although a full-thickness graft tends to limit contraction, it transfers undesirable epithelial appendages. The authors know of no controlled prospective evaluation performed to determine the benefits of meshed grafts versus unmeshed grafts to guide this decision.

A suitably shaped piece of polyethylene foam measuring approximately 5 cm in width and 15 cm in length serves as a mold for the neovagina. This is covered with adhesive plastic. Also used is a mentor mold, which is inflated with saline once placed in the neovaginal space. The skin graft is sutured to the mold using Vicryl, with the skin surface facing the obturator. This construct is inserted into the soft-tissue pouch. The labia are sewn closed with silk sutures. The Foley catheter is left in place, and the patient is given stool softeners.

Postoperatively, the patient is kept in the hospital for 1 week; the mold is then removed in the operating room. The neovagina is irrigated, and any areas of granulation tissue are cauterized. The patient is then discharged with a mold such as a Young dilator, which is removed upon voiding and defecation.

Correction of vaginal atresia using tissue from the intestine

The patient is placed in a lithotomy position to allow access to the abdomen and perineum. The abdomen is entered through a Pfannenstiel incision, and the status of the uterine remnant is evaluated. For the patient with müllerian agenesis, rudimentary uterine horns may be present with remnant fallopian tubes. The value of these structures, in terms of subsequent fertility, must be determined. The ovaries are typically normal and undisturbed. Patients with androgen insensitivity syndrome have male gonads, which are removed to prevent malignant transformation.

A segment of the sigmoid colon is chosen, with a major vascular pedicle supplying the mesenteric arcade. This segment is divided, and the adjacent intestinal tract is placed in continuity. Then, whether the graft is moved to the perineum in an isoperistaltic or reverse peristaltic manner is decided on the basis of the length of the mesenteric pedicle.

The chosen proximal end is closed in 2 layers. The perineal dissection requires a circular or cruciate incision at the hymenal ring. Then, blunt dissection from below toward the peritoneal reflection allows this incision to be opened and the sigmoid to be passed into the newly created tract. A single-layer anastomosis is created to the hymenal regions by using absorbable sutures. Attempts are made to extraperitonealize the sigmoid. A petroleum jelly (Vaseline) pack is placed in the neovagina to maintain apposition to the dissected tissues. The use of closed-suction drains is optional.

In patients presenting with variants of urogenital sinus, imperforate anus, and cloaca, a single-stage reconstructive pull-through procedure is an option. Because this procedure is not used in patients with pure vaginal agenesis, it is not discussed in detail in this article.[24,15 ]

Postoperative Details

Management after colon interposition vaginoplasty entails the routine postoperative care performed after bowel resection. Vaginal packing covered with a sheet of petroleum gauze is left in place for approximately 48 hours. Radhakrishnan (1987) recommends examination performed under anesthesia after 1 week to separate any synechiae.[25 ]Progressive dilations are begun 3 weeks after surgery to prevent stricture at the distal anastomosis.

Postoperative care after an Abbe-McIndoe operation differs because no intra-abdominal concerns are present. The mold maintaining the neovaginal cavity remains in place for 7-10 days to optimize graft adherence. It is then removed in the operating room, and the patient is fitted with a mold such as a Young dilator. Examination can often be accomplished in lithotomy stirrups without the need for general anesthesia.

Follow-up

Follow-up care should emphasize maintenance of an adequate vaginal opening and length. Reassessment and progressive sizing of the dilators occur until the patient is regularly sexually active.

Complications

Creation of a neovagina by using skin grafts requires long-term use of vaginal dilators, molds, or sexual activity to avoid stenosis. Dilator trauma places the posterior wall abutting the rectum at some risk for neovaginal-rectal ulcers and fistulas that may require additional surgery. Schult et al (2001) report a standardized surgical evaluation and repair technique that avoids a diverting colostomy in most patients.[26 ]A perineal approach to fistulectomy with 2-layer closure of the rectum and levatorplasty resulted in good functional outcomes in this series. The mean hospital stay was 13 days, and only 2 patients required additional surgery for late relapse of a fistula.

The potential for malignant transformation of the neovaginal epithelium is always present. This complication has been documented in at least one case report of incidental squamous cell carcinoma manifesting as a fistula.[27 ]

Complications related to the sigmoid neovagina tend to be related to excess mucous drainage and the potential for prolapse.

Outcome and Prognosis

Variations in patients' anatomic findings and the lack of a standardized surgical technique complicate the outcomes and prognostication. Reconstruction for vaginal atresia is frequently reported with other conditions that result in an abnormal perineum (ie, ambiguous genitalia and various anomalies ranging from urogenital sinus to cloaca). Therefore, accurate comparison of outcomes is difficult.

In addition, gender-identify issues in patients treated for ambiguous genitalia occasionally confound the patient's satisfaction from a cosmetic and functional standpoint. An increasing focus on the functional and psychological aspects of these reconstructive operations may help in identifying patients who are best suited to receive specific surgical techniques. This focus may also help in delineating the timing of interventions.

Future and Controversies

The complexities of the regulation of developmental processes are now becoming sufficiently clear to allow speculation regarding future intervention with specific modulators (eg, clinical evaluation of the effects of intervention by using müllerian-inhibiting substance [MIS]).

An alternative strategy may rely on advances in surgical techniques and on the application of homografts derived from advances in tissue engineering, which allow for reconstruction by using site-specific tissues.[28 ]

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Keywords

vaginal atresia, vaginal agenesis, Rokitansky-Mayer-Küster-Hauser syndrome, RMKH, Rokitansky-Mayer syndrome, Rokitansky syndrome, Rokitansky's syndrome, müllerian agenesis, McKusick-Kaufman syndrome, MKKS, Bardet-Biedl syndrome, BBS, absent vagina, uterovaginal outflow tract obstruction, vaginal obstruction, transverse vaginal septum, müllerian-inhibiting substance, MIS, amenorrhea, hydrometrocolpos, postaxial polydactyly, imperforate anus, congenital heart defects, secondary endometriosis

Contributor Information and Disclosures

Author

Amulya K Saxena, MD, PhD, Associate Professor, Department of Pediatric and Adolescent Surgery, Medical University of Graz, Austria
Amulya K Saxena, MD, PhD is a member of the following medical societies: Austrian Society for Pediatric and Adolescent Surgery, European Pediatric Surgeons Association, German Society of Pediatric Surgery, German Society of Surgery, International Pediatric Endosurgery Group, and Tissue Engineering and Regenerative Medicine International Society (TERMIS)
Disclosure: Nothing to disclose.

Coauthor(s)

Martin I Herman, MD, FACEP, FAAP, Professor, Department of Pediatrics, Division of Critical Care and Emergency Medicine, University of Tennessee Health Sciences Center; President, Pediatric Emergency Services Specialists, PC; Assistant Medical Director of Emergency Services, LeBonheur Children's Medical Center
Martin I Herman, MD, FACEP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Emergency Physicians, American Medical Association, and Tennessee Medical Association
Disclosure: Challenger COrporation Ownership interest Board membership

Elizabeth A Paton, RN, MSN, NP, CS Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Medical Center
Elizabeth A Paton, RN, MSN, NP is a member of the following medical societies: American Academy of Nurse Practitioners, American Academy of Pediatrics, Emergency Nurses Association, and Sigma Theta Tau International
Disclosure: Nothing to disclose.

Medical Editor

Elizabeth Alderman, MD, Director of Fellowship Training Program, Director, Adolescent Ambulatory Service, Clinical Professor, Department of Pediatrics, Division of Adolescent Medicine, Albert Einstein College of Medicine and Montefiore Medical Center
Elizabeth Alderman, MD is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, North American Society for Pediatric and Adolescent Gynecology, and Society for Adolescent Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Wayne Wolfram, MD, MPH, Associate Professor, Department of Emergency Medicine, Mercy St Vincent Medical Center
Wayne Wolfram, MD, MPH is a member of the following medical societies: American Academy of Emergency Medicine, American Academy of Pediatrics, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

CME Editor

H Biemann Othersen Jr, MD, Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina
H Biemann Othersen Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for the Surgery of Trauma, American Burn Association, American Cancer Society, American College of Surgeons, American Medical Association, American Pediatric Surgical Association, American Society for Parenteral and Enteral Nutrition, American Surgical Association, American Thoracic Society, British Association of Paediatric Surgeons, Society for Surgery of the Alimentary Tract, Society of Critical Care Medicine, South Carolina Medical Association, Southeastern Surgical Congress, Southern Medical Association, Southern Society for Pediatric Research, and Southern Thoracic Surgical Association
Disclosure: Nothing to disclose.

Chief Editor

Andrea L Zuckerman, MD, Assistant Professor of Obstetrics/Gynecology and Pediatrics, Tufts University School of Medicine; Division Director, Pediatric and Adolescent Gynecology, Tufts Medical Center
Andrea L Zuckerman, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, Association of Professors of Gynecology and Obstetrics, Massachusetts Medical Society, North American Society for Pediatric and Adolescent Gynecology, and Society for Adolescent Medicine
Disclosure: Nothing to disclose.

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