What is vaginal agenesis/Mayer–Rokitansky–Küster–Hauser syndrome?

Vaginal agenesis is a disorder of sex development (DSD). DSDs occur when a fetus develops differently from a typical male or female.

Girls with vaginal agenesis are born without a properly-developed vagina. The vagina may be only partially formed or it may be completely missing. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a type of vaginal agenesis.

Some girls with vaginal agenesis are also born without a fully-developed uterus. They might have kidney problems as well.

However, their ovaries are fully functioning, giving them the usual female secondary sex characteristics, such as breasts and pubic hair.

Because their genitals look typical, most girls with vaginal agenesis aren’t diagnosed until their mid-teen years. They may see a doctor because they haven’t started their menstrual periods yet. Diagnosis can be made with a physical examination and imaging tests. An ultrasound can determine whether the uterus and ovaries are fully developed. Some girls also have magnetic resonance imaging (MRI) tests.

Vaginal agenesis is usually discovered during puberty, when a girl does not have menstrual periods.

The condition is rare, affecting about 1 in 5,000 females, according to the Urology Care Foundation.

Treatment for vaginal agenesis may involve dilation, a non-surgical method for creating a new vagina. There are also surgical options.

Women who have undergone treatment can have healthy sex lives. Much sexual pleasure comes from stimulation of the clitoris, which is not affected by vaginal agenesis.