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. Some facts about the condition:

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.

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 team at the Boston Children's Hospital Division of Gynecology and the Center for Congenital Anomalies of the Reproductive Tract are 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 have the expertise to treat your daughter. We are 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.

The Center for Young Women’s Health (CYWH) brings together the Division of Gynecology and the Division of Adolescent & Young Adult Medicine, offering 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.