eMedicine Specialties > Pediatrics: Surgery > Gynecology

Vaginal Atresia

Author: Amulya K Saxena, MD, Attending Pediatric Surgeon, Department of Pediatric Surgery, Medical University of Graz, Austria
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; Elizabeth A Paton, RN, MSN, NP, CS Nurse Practitioner, Department of Emergency Medicine, Le Bonheur Children's Medical Center
Contributor Information and Disclosures

Updated: Dec 11, 2008

Introduction

Each examination of a newborn should include an inspection of the genitalia because absence of the vagina or atresia can 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.

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. Reports of suboptimal results, particularly vaginal stenosis and dyspareunia, in 50% of patients treated with McIndoe's technique have fed the current controversy regarding the optimal tissue for constructing a neovagina.

Problem

Vaginal atresia is a congenital defect resulting in uterovaginal outflow tract obstruction. 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 a class I müllerian anomaly, 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 vaginal atresia occurs in conjunction with an absent uterus, which is 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 female individuals.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. Findings in adolescents include abdominal pain, difficulty voiding, and backache. 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

1. Agenesis or hypoplasia of the entire uterine ridge
2. 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
3. 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)
4. Anomalies of the urogenital sinus (eg, cloacal anomalies)
5. Malformative combinations (eg, wolffian, müllerian, and cloacal anomalies)

When evaluating vaginal atresia–associated syndromes other than RMKH, the physician 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:

1. 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.
2. 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.
3. If ear anomalies are seen in conjunction with vaginal atresia, Fraser syndrome should be considered.
4. If ear anomalies are seen in conjunction with vaginal atresia, Winters syndromes should be considered.

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.^8,9

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

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

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.

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 regimens necessary for a successful outcome. Surgical intervention is usually delayed until age 17 years. 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.

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.

• Search for CME/CE on This Topic »

• Menstruation Disorders (Pediatrics: Surgery)
• Mayer-Rokitansky Syndrome (Pediatrics: Surgery)
• Mullerian Duct Anomalies (Obstetrics and Gynecology)
• Outflow Obstructions (Pediatrics: Surgery)