Vaginal agenesis

Overview

Vaginal agenesis is a birth defect where a child’s vagina does not form properly in the womb, so parts or all of the vagina may be missing. This condition might not be noticed until the teenage years, typically when the person does not start their period as expected.

With vaginal agenesis, the outer genitals often look normal, which is why it often goes undetected. It can sometimes be linked to other issues like kidney or bone problems. Vaginal agenesis is also known as Müllerian agenesis, Müllerian aplasia, or Mayer-Rokitansky-Küster-Hauser syndrome.

Several treatments can help create a functional vagina, allowing for a healthy life and a normal sex life. Treatment usually involves medical devices that slowly stretch the vaginal canal, but surgery might be needed to create an opening.

Symptoms

Vaginal agenesis can show a few different signs. One common sign is amenorrhea, which is when someone does not start having a period by age 15.

Other signs of vaginal agenesis include:

• The genitalia resemble those typically found in females.
• The vagina might be shorter than usual, without a cervix at the end, or it may be absent, with only a slight indentation where the vaginal opening would normally be.
• The uterus might be missing entirely or only partially developed. In cases where there is uterine tissue (endometrium), individuals may experience monthly cramping or chronic abdominal pain.
• The fallopian tubes—the pathways that eggs travel through from the ovaries to the uterus—might be missing or not formed correctly.
• The ovaries, which produce eggs, are usually fully developed and functional. However, they might be located in an unusual place in the abdomen.
• Cryptomenorrhea can happen when menstrual blood builds up inside the body because it cannot exit, causing cramping and pain in the abdomen.

Vaginal agenesis can sometimes come with other health issues, like problems with kidney and urinary tract development, changes in development of bones of the spine, ribs, and wrists, hearing issues, and other birth-related conditions affecting the heart, digestive system, and limb growth.

It’s crucial to seek medical advice if a girl hasn’t begun menstruating by the age of 15. Any abnormalities in the vaginal region warrant prompt medical attention.

Causes

Vaginal agenesis happens while a fetus is growing in the womb. During the first 20 weeks of pregnancy, something goes wrong with the formation of the female reproductive system, affecting the vagina, uterus, fallopian tubes, or cervix.

Usually, the lower segment of these ducts matures into the uterus and vagina, while the upper segment forms the fallopian tubes. When the Müllerian ducts don’t develop fully, it can lead to the absence or partial closure of the vagina, the absence or partial development of the uterus, or both.

It is believed that abnormalities could be caused by environmental factors, like exposure to harmful substances during pregnancy, or they could be linked to genetics.