History and Physical Examination
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 ultrasonographic screening frequently raises suspicion of the diagnosis. Findings in adolescents may include abdominal pain, difficulty voiding, and backache, but most present with amenorrhea. [9] 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. [10, 11]
Although findings may not suggest vaginal atresia in an infant with Mayer-Rokitansky-Küster-Hauser (MRKH) 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 five categories [12] :
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Agenesis or hypoplasia of the entire uterine ridge
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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
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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 MRKH syndrome)
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Anomalies of the urogenital sinus (eg, cloacal anomalies)
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Malformative combinations (eg, wolffian, müllerian, and cloacal anomalies)
When evaluating vaginal atresia–associated syndromes other than MRKH, the physician should consider the overlap among the four primary differential diagnoses. These diagnoses have significantly different implications for long-term outcomes. The differential diagnoses are as follows:
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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
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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 years), postaxial polydactyly, obesity, nephropathy, and mental disturbances
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If eye anomalies are seen in conjunction with vaginal atresia, Fraser syndrome should be considered [13]
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If ear anomalies are seen in conjunction with vaginal atresia, Winter syndrome should be considered [14]
Caution is advised in definitively diagnosing McKusick-Kaufman syndrome in infancy because the features that later define Bardet-Biedl syndrome may not be apparent at that stage; the absence of these features may lead to false reassurance in the diagnosis. [15, 16]
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.
The American College of Obstetricians and Gynecologists (ACOG) Committee on Adolescent Health Care has published an opinion on müllerian agenesis and its diagnosis, management, and treatment. [17]
