Agenesis is a medical word that means a body part never formed before birth. The term vaginal agenesis means that the female does not have a vagina (or birth canal) because it never formed. It is considered a birth defect. In over 90% of females with vaginal agenesis, the uterus (or womb) also does not form or is not fully developed; however, the ovaries and breasts form and function. Vaginal agenesis affects about one in every 5,000 females.
Causes
In most cases of vaginal agenesis, the cause is not known. Researchers continue to try to find the cause. In rare cases, a genetic mutation can cause vaginal agenesis.
Diagnosis
Rarely, vaginal agenesis is noticed in a baby or girl before puberty on a physical examination of the female genitalia because there is no vaginal hole or opening. In most cases, vaginal agenesis is discovered after puberty. As the ovaries start making adult female hormones, the female will grow breasts at puberty but never have a period. If a female does not start her period (menstruation) by the time she is 15 years old, this may be a sign of vaginal agenesis. Only a doctor can diagnose the condition, as there can be other problems that cause no periods to begin. To properly diagnose the problem, the doctor will need to do a few tests, including:
Physical exam of the vaginal area
Genetic test using a blood sample to see if the condition was caused by changes in your child’s DNA and chromosomes
Ultrasound (a type of imaging that uses sound waves to check for the presence of ovaries and uterus)
Magnetic resonance imaging (MRI) (a way to check for the presence of ovaries and uterus using magnetic fields and radio frequencies to make an image)
Treatment
There are non-surgical and surgical ways to treat vaginal agenesis.
Nonsurgical – Over a span of months, the young woman with vaginal agenesis can create a vagina by daily gradually pushing rounded rods called dilators to widen and deepen the vaginal area. This is often very effective and permits future sexual intercourse.
Surgical – Surgery may also be an option for patients who do not have success with non-surgical vaginal dilation. Surgery to make a vagina is called a vaginoplasty. There are several types of vaginoplasty surgeries. While pediatric urologists and gynecologists can perform this surgery, it is important to find a surgeon with abundant experience in performing vaginoplasty surgery. Surgery and recovery take 1-3 months.
While young women born with vaginal agenesis can have sex after successful vaginal dilation and/or vaginoplasty surgery, most females with vaginal agenesis do not have a uterus and cannot carry a pregnancy. Since they do have ovaries, their eggs can be used for pregnancy carried by another woman (called surrogacy). Another more recent alternative, uterus transplant, has been performed for these young women. This allows them to carry their own child in the transplanted uterus.
Linda A. Baker, MD, pediatric urologist, principal investigator, and one of the world’s foremost experts on prune belly syndrome, recently joined Nationwide Children’s Hospital as the co-director of the Kidney and Urinary Tract Center.
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