We understand that you will likely want to learn more about vaginal agenesis in order to seek the best medical care for your daughter. The Gynecology team here at Boston Children’s Hospital has the resources and expertise to provide the medical care and emotional support that your daughter and family will need to cope with this condition.
What is vaginal agenesis?
Vaginal agenesis, or absence of the vagina, is a congenital disorder of the female reproductive tract. It affects approximately 1 in every 5,000 female infants. The cause of vaginal agenesis is unknown. The most common form of vaginal agenesis is Mayer-von Rokitansky–Küster-Hauser’s syndrome (MRKH), in which the vagina did not grow during embryologic development. It is important to know that all women with MRKH do have functional ovaries, have normal development of breasts and pubic hair and make normal female hormones.
There are many variations to MRKH
- no vagina and no uterus (in which case she would however have normal ovaries) alternatively
- no vagina and may have a single midline uterus and no cervix
- She will not have periods that will allow flow of blood out of her body as she has no cervix and no vagina. With menstruation and shedding of the endometrial lining, the blood would go in a retrograde fashion, meaning she would bleed back into her uterus instead of outside her vagina.
- small rudimentary uterine horns which are lateral to the midline
As described above, women with vaginal agenesis may or may not have uterine structures. For management, the goal would be to create a vagina for sexual activity and then the option for reproduction would involve the utilization of assisted reproductive technologies using her eggs and her partner’s sperm and placing them within a gestational carrier, also known as a surrogate mother.
What causes vaginal agenesis?
The exact cause of this genetic abnormality is unknown, but many different congenital conditions are known to lead to vaginal agenesis.
- Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH) leads to 90 percent of vaginal agenesis cases. There are several different variations of this congenital disorder. Some patients may have no vagina and no uterus. Others may have a midline uterus, but no vagina and no cervix. Sometimes MRKH is associated with kidney, skeletal and hearing problems. Most commonly, a patient with MRKH will not have a uterus.
- It's important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.
- Approximately seven to eight percent of patients with vaginal agenesis have a less common condition called androgen insensitivity syndrome (AIS). These patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries.
- There are no known ethnic groups that are especially at risk for vaginal agenesis.
Is vaginal agenesis inheritable?
There is little evidence that agenesis of the lower vagina runs in families. There are no known risk factors for vaginal agenesis.
How will vaginal agenesis impact my daughter's sexual life or fertility?
- Depending on the reproductive organs affected, your daughter's sexual life and fertility could be impacted in a variety of ways. If she was born with a normal-sized uterus, she may be able to become pregnant and deliver a baby.
- There are options for women born without a uterus or with a tiny uterus. The ovaries that make eggs function normally. With the help of assisted reproductive technology, your daughter’s own egg(s) could be fertilized with her partner’s sperm then placed in a surrogate carrier, when the time is right.
- Much of female sexual pleasure comes from stimulation of the clitoris. Since patients with vaginal agenesis have normal external genitalia, she should be able to experience normal orgasmic function.
What are the symptoms of vaginal agenesis?
- small pouch or dimple where vaginal opening should be
- lack of menstrual cycle
- lower abdominal pain if a uterus is present without a connection to a vaginal canal.
Q: Is my daughter really a female?
A: Even if your daughter has MKRH, and lacks a vagina, she is still genetically female with two X- chromosomes just like any other girl. Her ovaries are not affected so her body will make normal hormones and she will go through puberty along with other young women her age.
Q: Can my daughter still have her own genetic children if she doesn’t have a vagina?
A: Yes. Most young women will need to use a gestational carrier’s (surrogate mother) uterus to carry and deliver a baby, but use their own egg(s) and their partner’s sperm to conceive the baby.
Q: Will my daughter be involved in the decision process to have treatment?
A: Yes! We believe your daughter should be actively involved in her treatment plan. She should be the one to decide when and what type of treatment she would like or no treatment at all.
Questions to ask your daughter’s doctor
After your daughter is diagnosed with vaginal agenesis, it is normal to feel worried and perhaps overwhelmed with a lot of new information.
Lots of parents find it helpful to jot down questions as they arise- that way, when you talk to your daughter’s medical team you can be sure that all of your questions and concerns are addressed. If your daughter is old enough, you may want to suggest that she writes down any questions as well.
Here are some questions to get you started:
- What are the treatment options for vaginal agenesis?
- How can help my daughter cope with having vaginal agenesis?
- What kinds of resources are available for my daughter and family?