Medical mystery: Teen’s recurrent abdominal pain led to a very rare diagnosis

My 14-year-old patient with a history of asthma, allergies, constipation, and obesity came into our emergency room after a few days of abdominal pain and vomiting. I hadn’t seen her in a couple of years because of her complicated family situation, which kept her from regular checkups.

At the ER, she had no fever and her vomit had no blood or bile in it. Her physical exam was normal except that her abdomen was mildly distended, and she reported slight pain when it was palpated during the exam. She was diagnosed with a stomach virus, and sent home with Zofran, a medication that helps with nausea.

Ten days later, she was in our outpatient clinic complaining of constipation, but due to her worsening abdominal pain and a 10-pound weight loss in that short time, we sent her back to the ER.

She admitted that she had suffered intermittent abdominal pain for two years, but never this bad. She hadn’t started her period yet, but a pregnancy test was performed and was negative. She also had a slew of other tests, which were all negative. Her physical exam was similar to the one from 10 days earlier.

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An X-ray of her abdomen was normal. She continued to have significant pain, so an ultrasound was performed to rule out appendicitis or another cause of her pain.

What the team saw on the ultrasound would change our young patient’s life.

The ultrasound showed a condition called hematometrocolpos, from hemato, meaning blood; metra, or uterus; and colpos, or vagina. Put together it means the uterus and vagina are full of blood.

There are several causes of this, from an imperforate hymen, to the shape of the vaginal opening, to the least common, vaginal atresia, in which the vaginal opening fails to develop as it normally does during puberty.

My patient had fully developed breasts and pubic hair but no developed vaginal opening, which led to the diagnosis of vaginal atresia. An MRI showed there was no opening, accounting for our patient’s condition.

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Menstruation is an extremely complicated chain of events that originates in the brain that sends signals to the ovaries to produce the required hormones. There are several causes of a teen not having her period within the usual time frame, which is about age 12 to 15, including hormonal issues and genetic causes. Hematometrocolpos caused by complete vaginal atresia, is very rare.

For our patient, the diagnosis was only the start of her road to recovery, which is extremely difficult both physically and emotionally. We recently had a very tearful follow-up visit. She was still missing a lot of school from her continued pain, and was extremely embarrassed by the bag attached to her abdomen, required to drain the excess blood from her body.

She told me that some family members even asked her whether she was a “real” woman and whether she would be able to have children. Such unfeeling comments to a young girl broke my heart. After months of therapies, she is almost ready to have a complex surgical procedure that, we all hope, will solve her issues.

Daniel R. Taylor is medical director of the outpatient center at St. Christopher’s Hospital for Children.