Don't overlook diagnosis of mullerian agenesis.(Gynecology)

PORTLAND, ORE. -- Some cases of apparent imperforate hymen are actually mullerian agenesis, and that possibility should be in the differential diagnosis, David M. Lee, M.D., said at a conference sponsored by the North Pacific Pediatric Society.

He described one case of a 12-year-old girl who had three hymenectomies for what turned out to be mullerian agenesis.

Another case, that of a 15-year-old girl, is perhaps more typical. Her chief complaint was primary amenorrhea and cyclic pain. She had normal breast and pubic hair development. The original ultrasound examination was interpreted as showing a "small uterus," deviated to the right, and normal ovaries. She had one attempted hymenectomy.

"In defense of the first physician, it does look like an imperforate hymen," said Dr. Lee of Oregon Health & Science University, Portland. In fact, she had mullerian agenesis and was missing the uterus and the upper vaginal system.

In addition to mullerian agenesis, several other conditions should be in the differential, he said. These include vaginal atresia, longitudinal septi, transverse septum, cervical agenesis, androgen insensitivity syndrome, and intersex conditions.

The work-up should include serum testosterone--which differentiates between mullerian agenesis and androgen insensitivity--and imaging, either ultrasound or MRI.

The incidence of mullerian agenesis is quoted in the published literature as 1 per 5,000 women, but Dr. Lee's clinical impression, based on the number of referrals he receives, is that the actual incidence is higher.