Pediatric Imperforate Hymen Clinical Presentation

Updated: Jun 23, 2020
  • Author: Amulya K Saxena, MD, PhD, DSc, FRCS(Glasg); Chief Editor: Andrea L Zuckerman, MD  more...
  • Print
Presentation

History and Physical Examination

Clinical presentations of imperforate hymen range from an incidental finding on physical examination of an asymptomatic patient to findings discovered on an evaluation for primary amenorrhea or abdominal or back pain. [9, 10, 11]

Neonate

Careful evaluation of the perineum of the newborn is essential. Under the influence of maternal estrogens, the female neonate typically has full labia majora. Inspection of the introitus reveals that the hymenal membrane is pink and slightly edematous. The edges of the hymenal membrane may even appear fimbriated.

In the newborn with an imperforate hymen, the membrane is often bulging between the labia because of retained mucoid secretions (see the image below). The membrane may be white because it is distended from trapped mucoid material secreted as a result of stimulation by maternal estrogen. One must distinguish imperforate hymen from a vaginal cyst, which fills the introitus but is attached to only one vaginal aspect.

Neonate with a bulging perineum due to mucocolpos. Neonate with a bulging perineum due to mucocolpos.

In severe cases, the distention is in the distal vaginal tract and extends proximally into the uterus. A lower abdominal midline mass may be evident on physical examination because the shallow pelvis of a neonate allows the uterus to be palpated above the pubis symphysis. This mucocolpos can lead to urinary tract infections or bladder obstruction. The fact that most patients with imperforate hymen present during early adolescence suggests that the diagnosis is often overlooked during neonatal examination.

Prepubertal child

In the prepubertal child, an imperforate hymen can be mistakenly diagnosed as labial agglutination or a congenitally absent vagina. Differentiation on gross physical examination is often difficult because of the lack of estrogenization of the perineum.

Placing the patient in the knee-chest position aids physical examination in this age group. Have the patient kneel on the examination table with her elbows on the table and her face resting in her hands. Gently spread the buttocks and labia and have the patient exhale or blow. [12] If the examination is still difficult, sedation or anesthesia may be necessary. If an abnormality is suspected, rectal examination or ultrasonography (US) may help in making the proper diagnosis.

Adolescent

The most common clinical presentation includes primary amenorrhea. The adolescent with imperforate hymen typically presents with symptoms of lower abdominal or pelvic pain that may initially be cyclical. A thorough history should be obtained, and the patient and family should be questioned about the patient's abdominal or pelvic pain, with particular reference to the following:

  • Cyclical pain
  • History of vaginal bleeding (which suggests secondary amenorrhea)
  • Family history of genitourinary abnormalities, including imperforate hymen
  • Other factors that may help determine if any underlying endocrinologic problem is present

During questioning, the patient and family usually recognize a cyclic pattern to the patient's abdominal symptoms.

When an adolescent presents with primary amenorrhea, careful physical examination is essential. The presence or absence of secondary sexual characteristics should be noted. In the symptomatic female adolescent, genital examination typically reveals a bulging bluish membrane across the vaginal vestibule, which represents the hematocolpos (ie, menstrual products retained in the vagina). If bulging is not noted in the resting state, it may be elicited by having the patient perform a Valsalva maneuver.

Additional presenting symptoms

Additional presenting symptoms of imperforate hymen include back pain, urinary retention [13] (37-60% of patients), and constipation. [14] Urinary retention may be so severe, even in infants, that it can lead to bilateral hydronephrosis [15] or life-threatening renal failure. [16] Although cyclic lower abdominal pain is most frequently reported as the presenting symptom in young women, back pain and urinary retention have also prompted evaluation and resolved after hymenotomy.