Pathophysiology: Embryologically, the lower two thirds of the vagina develop from the urogenital sinus. The upper vagina, cervix, uterus, fallopian tubes, and ovaries form from the Müllerian duct system. Failure of vertical fusion or canalization of the 2 systems in utero may result in cervical stenosis or atresia, vaginal atresia, or transverse vaginal septa. In addition, hymenal tissue may be imperforate.

Frequency:

• Internationally: Imperforate hymen is the most common genital outflow tract anomaly.

Mortality/Morbidity: Patients with undiagnosed imperforate hymen who have reached menarche may have recurrent, cyclic lower abdominal pain.

Age: Although imperforate hymen is a congenital anomaly and can be detected early in life, imperforate hymen remains undetected until puberty in many patients. At birth, the presence of increased mucous secretions in the vagina secondary to maternal estrogen effects may result in a bulging hymen, which is observed easily. If not detected at birth, secretions resorb, and the condition may be undetected until puberty.

History:

• Although observation of an imperforate hymen can occur on genital inspection with labial separation, the majority of patients present with history of amenorrhea, recurrent lower abdominal cyclical pain, or lower abdominal midline mass.

• Severe long-standing obstruction may cause urinary retention, constipation, and hydronephrosis.

Physical:

• Physical examination reveals imperforation of hymenal tissue. Variations of an imperforate hymen include microperforate, septate, stenotic, and cribriform hymen.

• If menstruation occurs and hematocolpos develops, the hymen may bulge and exhibit a bluish discoloration.

• In cases of transverse vaginal septum, physical findings depend on the site of the septum (ie, low, mid, or high). If the site is low, a knee-chest examination may reveal the presence of the bulging septum. The vagina is observed as a blind pouch. Digital examination reveals the septum in the vagina. The most common location is the upper third of the vagina. Septa usually have microperforations; however, these usually are insufficient in preventing hematocolpos.

Lab Studies:

• History and physical examination usually establish the diagnosis.

• In rare cases of transverse vaginal septum with microperforation, ascending infection may lead to pyohematometra. Fluid culture is helpful in determining appropriate antibiotic therapy.

Imaging Studies:

• Pelvic ultrasound can reveal additional associated congenital malformations of the uterus or cervix. Ultrasound also reveals hematocolpos or hematometra.

• MRI can delineate other associated abnormalities such as those of the urinary tract.

Other Tests:

• If the patient has a blind vaginal pouch and no pubic or axillary hair, karyotyping or serum testosterone levels are helpful in establishing the diagnosis of androgen insensitivity syndrome.

• If the patient has Müllerian agenesis (absent uterus and tubes, normal female karyotype), consider screening for other skeletal and urinary anomalies.

Surgical Care:

• Although repair is facilitated when estrogen stimulation is present, repair of an imperforate hymen can be performed in infancy, childhood, or adolescence. A Bovie with three fourths of its tip shielded can be used to excise the hymen close to the hymenal ring. After the fluid is drained, the hymenal area is opened further, and the vaginal mucosa is sutured to the hymenal ring to prevent recurrence.

• Puncture and drainage of a hematocolpos without a definitive surgical procedure is not recommended. The fluid is viscous and may not drain adequately, which increases the risk of an ascending infection.

• Surgery for a transverse vaginal septum depends on location, thickness, and need for vaginoplasty. Repair usually involves excision of the septum with end-to-end anastomosis of the vaginal walls.

Consultations:

• After establishing the diagnosis, consultation with a pediatric gynecologist or urologist who is familiar with these conditions is recommended.

Further Outpatient Care:

• A follow-up examination 4-6 weeks after repair is recommended to ensure that scar tissue has not caused a recurrence of obstruction.

Complications:

• Hematocolpos

• Hematometra

• Pyohematocolpos

• Pyohematometra

• Urinary retention, hydronephrosis (rare)

• Postoperative recurrence of obstruction

• Constipation

• Abdominal mass

Prognosis:

• Prognosis is excellent, and full recovery is typical.