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What's the Diagnosis?

October 2019

Visual Diagnosis


Laura Plencner, MD
| Pediatric Hospital Medicine | Associate Professor of Pediatrics, UMKC School of Medicine       


A previously healthy 14-year-old girl presents for abdominal pain and difficulty urinating. She reports lower abdominal and lower back pain for the past week. She has no previous history of similar pain. She has tried taking over-the-counter medications for constipation without improvement in her symptoms. She has not had fever, nausea, vomiting, diarrhea or dysuria. She denies vaginal discharge and denies history of sexual activity and is premenarchal. On the day of presentation, she developed difficulty urinating, worsening pain and was brought to the emergency department. Her vitals and physical exam were normal except for pain with palpation of her bilateral lower abdominal quadrants and a palpable mass above her pubic symphysis. A CT scan was obtained for further evaluation.

Of the following, a common presenting symptom of this disorder is:

A.  Amenorrhea

B.  Fever

C.  Urinary retention

D.  Vomiting

The CT scan shows hematometrocolpos due to imperforate hymen. A common presenting symptom of hematometrocolpos due to imperforate hymen is primary amenorrhea. Fever and vomiting are not common presenting symptoms. Urinary retention is an uncommon presenting symptom of hematometrocolpos.

Vulvovaginal and mullerian anomalies result from interruption in the embryological sequence and can include abnormalities of all or part of the Fallopian tube, uterus, cervix and vagina. During embryological development the mullerian ducts are initially fused at about 10 weeks of gestation and the system eventually cannulizes to form the urogenital sinus and the uterovaginal canal between 16 and 20 weeks of gestation. Additionally, a thin hymenal membrane between the uterus and vagina is present. When there is a failure of resorption of inner septae or failure to canalize, vulvovaginal and mullerian anomalies occur. 

Anomalies that lead to an outflow obstruction can lead to fluid collection within the vulvovaginal system. Hematocolpos and hematometra is the accumulation of blood in the vagina and uterus, respectively, while hydrocolpos and hydrosalpinx are accumulation of mucus or serous fluid in the vagina and Fallopian tube, respectively. Obstruction leading to hematometrocolpos can be caused by imperforate hymen, transverse vaginal septum, distal vaginal agenesis, or a non-communicating rudimentary horn. Imperforate hymen is the most common obstructive lesion. Anomalies are estimated to be present in 2-4% of the population, but are likely underestimated since many are asymptomatic.

Symptoms of hematometrocolpos include cyclical abdominal pain in association with primary amenorrhea and is most commonly diagnosed in the adolescent period. Additional presenting symptoms can rarely include urinary retention, urinary hesitancy, or incomplete urinary emptying due to obstruction of the ureter by the distended uterus. 

Of note, other secondary sexual characteristics are normal despite amenorrhea. Physical examination can show a bulging mass at the introitus or palpable lower abdominal mass. Diagnostic imaging evaluation can include pelvic ultrasound or MRI of the pelvis, and MRI is the gold standard to evaluate a complex anomaly. Additionally, genetic disorders can be associated with mullerian anomalies and further evaluation may be indicated for certain anomalies. Imperforate hymen can also be diagnosed in the newborn period with mucocolpos from maternal estrogen exposure causing a bulging membrane at the introitus. Treatment of hematometrocolpos caused by imperforate hymen is division of the hymenal membrane to relieve the obstruction.


Eskew, A. M. and Merritt D. F. (2020) Vulvovaginal and Mullerian Anomalies In R. M. Kligeman et al (Ed.), Nelson Textbook of Pediatrics (pp. 2867-2872). Philadelphia, PA: Elsevier.