Vaginal Agenesis

Vaginal agenesis is a rare birth defect where a woman's vagina doesn't fully form. Sometimes, the womb (uterus) might also not develop properly, or only partially. This problem is present from the time a baby is developing in the womb. It can sometimes be linked to issues with the kidneys or the skeleton.

This condition has other names, including Müllerian agenesis, Müllerian aplasia, or Mayer-Rokitansky-Küster-Hauser syndrome.

Often, vaginal agenesis isn't noticed until a girl reaches puberty and doesn't start her menstrual period. A common treatment is using a vaginal dilator. This is a tube-like device that gently stretches the vagina over time. This can often be very successful in creating a vagina that's large enough for normal sexual function. If stretching isn't enough, surgery might be needed. Either way, the goal of treatment is to create a vagina that allows for vaginal intercourse.

Sometimes, a girl's vagina doesn't fully develop. This is called vaginal agenesis. Often, it's not noticed until a girl is a teenager and doesn't start her period (called amenorrhea). Other signs of puberty, like breast development and body changes, might happen normally.

The physical signs of vaginal agenesis can vary. A girl might appear to have normal female external genitals. However, the vagina might be very short, without the opening to the cervix, or it might be missing entirely, only showing a small indentation where it should be. The uterus might be absent or underdeveloped. If there's a uterus, the lining (endometrium) can cause monthly cramping or ongoing stomach pain.

The ovaries, which produce eggs, usually develop normally and work properly, but sometimes they're located in a slightly unusual place in the belly. The tubes that carry eggs from the ovaries to the uterus (fallopian tubes) might not develop correctly or might be missing.

Girls with vaginal agenesis can also have other health problems. These can include issues with how the kidneys and urinary system develop, changes in the bones of the spine, ribs, or wrists, hearing problems, and other birth defects that affect the heart, digestive system, or limbs.

If a girl hasn't started her period by age 15, it's important to see a doctor. Early diagnosis and treatment can help manage any related health concerns and provide important information about future reproductive options.

If you haven't started your period by the time you turn 15, it's a good idea to talk to your doctor or other healthcare professional.

Vaginal agenesis is a condition where the vagina doesn't form correctly. Doctors don't know the exact reason why this happens, but it seems to be linked to problems with the development of certain tubes (called Müllerian ducts) during the first five months of pregnancy (roughly the first 20 weeks).

Normally, these Müllerian ducts grow and split into different parts. The lower part of these tubes usually grows into the uterus and vagina, while the upper part forms the fallopian tubes (which carry eggs). When the Müllerian ducts don't develop properly, it can lead to a missing or partially formed vagina, a missing or underdeveloped uterus, or both.

Having a missing or underdeveloped vagina (vaginal agenesis) can affect sexual experiences. However, after treatment, the vagina usually functions normally for sex.

If you have a missing or incompletely formed uterus, getting pregnant naturally isn't possible. But if you have healthy ovaries, there's still a chance to have a baby. One option is in vitro fertilization (IVF). With IVF, doctors can create an embryo and then implant it into a different person's uterus (a gestational carrier). This other person carries the pregnancy to term. It's important to talk with your doctor about all your options for having a family.

Doctors diagnose vaginal agenesis by reviewing your medical history and doing a physical exam.

This condition often shows up during puberty when a girl hasn't started her period, even though she's developed breasts and body hair. Sometimes, it's found earlier, during a check-up for something else, or if a doctor or parent notices a baby girl doesn't have a vaginal opening.

To confirm the diagnosis and rule out other possibilities, your doctor might suggest some tests:

• Blood tests: These tests check your chromosomes and hormone levels. This helps confirm the diagnosis and see if there are any other underlying medical issues.

• Ultrasound: An ultrasound uses sound waves to create pictures of your internal organs. It helps your doctor see if you have a uterus and ovaries and if there are any problems with your kidneys.

• Magnetic Resonance Imaging (MRI): An MRI provides a detailed picture of your reproductive organs and kidneys. This gives the doctor a clearer view of the problem area.

• Other tests: Sometimes, your doctor might order other tests to check your hearing, heart, and bones. This is to make sure there aren't any other related health issues.