Vaginal Agenesis

What is vaginal agenesis?

During pregnancy, a baby's reproductive system may not finish developing in the mother's uterus. She may be born without a vagina and have other absent reproductive organs. This condition is called vaginal agenesis.

  • Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants.
  • Sometimes vaginal agenesis is recognized at birth. Most times, the condition isn't diagnosed until puberty, when the teen notices she hasn't started her period and seeks medical advice.
  • 90 percent of patients are born with Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH)—have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. All females will either have an absent vagina or an incomplete vaginal canal.
  • Young women with vaginal agenesis have normal ovaries and normal external genitalia and thus go through puberty and develop breasts, under arm and pubic hair, except they will not have a periods.
  • 30 percent of patients with vaginal agenesis have kidney abnormalities. Usually, one kidney is absent or one or both kidneys are dislocated. The kidneys could also be fused together in a horseshoe shape.
  • Approximately 12 percent of girls with vaginal agenesis have skeletal abnormalities. Two thirds of those patients experience minor problems with the spine, ribs or limbs.

It's perfectly normal for your daughter to feel anxious and or sad when she hears this diagnosis and grasps that she will not be able to become pregnant and carry a child. Gender identity and body image issues are also expected, but it's important for you and your daughter to know that she is a genetic female with the ability to experience normal sexual feelings. After successful treatment, no future sexual partner will be able to tell that she was born with vaginal agenesis.

How we care for vaginal agenesis

The staff at the Center for Congenital Anomalies of the Reproductive Tract is committed to working with females up to age 22 who are born with an anomaly of a reproductive organ, including vaginal agenesis. The multidisciplinary team of gynecologists, radiologists, nurse specialists and social workers here at Boston Children’s Hospital are dedicated and have the expertise to treat your daughter with exceptional medical care and with respect. The team understands that this is a sensitive diagnosis. The Center is equipped to provide a full range of services including testing, treatment, counseling and follow-up, not only caring for the physical effects, but also providing much needed understanding and emotional support for the teen and her family.

Children’s Center for Congenital Anomalies of the Reproductive Tract at Children’s Hospital Boston is the largest referral center for pediatric and adolescent MRKH in the United StatesWhile it is a condition hidden from the public eye, it can be psychologically devastating for the young women and her family.  Learn more about coping strategies for parents and guardians of children with MKRH

The Center for Young Women’s Health  (CYWH) is a joint initiative between the Division of Adolescent & Young Adult Medicine and the Division of Gynecology at Children’s Hospital Boston. The center brings together programs, resources and services to empower young woman around the world to take an active role in their own health care.  What makes the center uniq­­­­ue is a team approach, as  doctors, nurses and social workers work together to provide accurate diagnoses and exceptional care and treatment options, if your daughter desires treatment.  You can find the most up-to-date information about issues including: gynecology, sexuality and health and development, fitness and nutrition and emotional health. Read about the adventures, experiences and thoughts of our youth advisors and mentors; and make an appointment to see one of our experts.