Vaginal atresia is a rare condition in which the lower portion of the vagina has not formed as it should. The lower portion of the vagina may instead consist of fibrous tissue, which can cause a blockage. A person with vaginal atresia will still have ovaries and a uterus, although they may be underdeveloped.
The vagina is the muscular tube that leads from the external genitals, or vulva, to the cervix of the uterus.
A person may not be aware that they have vaginal atresia until they reach puberty and do not begin menstruating despite having all other signs of puberty.
This article looks at the condition, the symptoms, and how to treat it.
Learn more about the anatomy of the female reproductive system.
According to a 2018 case report, vaginal atresia is a rare condition affecting 1 in 4,000–10,000 people. Some people also use the term vaginal agenesis to describe this condition, although the two conditions have differences.
However, there is no universal system to classify this condition, making identification difficult.
A 2020 case study notes that during fetal development, the Müller’s ducts form the fallopian tubes, the uterus, and the upper, or proximal, two-thirds of the vagina.
The lower, or distal, portion of the vagina develops from the urogenital sinus, a part of the body that is present during the development of the reproductive and urinary organs.
Vaginal atresia occurs when the urogenital sinus fails to form the lower portion of the vagina.
Instead, a plug of fibrous tissue may block the vaginal opening. Behind the plug of tissue, the vagina can be shorter or missing. There may also be no connection between the upper and lower part of the vagina.
The vaginal changes are internal. As a result, external genitalia, or vulva, remains unaffected.
The condition usually occurs as a result of the following syndromes:
- Bardet-Biedl syndrome
- Fraser syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
Vs. vaginal agenesis
Vaginal agenesis occurs when the upper portion, or proximal portion, of the vagina does not develop. In
During fetal development, the Müllers ducts come together to create the uterus, fallopian tubes, and most of the vagina. With vaginal agenesis, the Müllerian ducts do not fuse to form the upper part of the vagina.
Vaginal agenesis affects the Müllers ducts, but vaginal atresia does not.
A doctor may diagnose vaginal atresia at birth during a physical examination.
Others may not receive a diagnosis until puberty, when they seek help to find out why they have not started their period.
To diagnose vaginal atresia, a doctor will perform a physical examination or order an ultrasound or MRI scan.
Some types of vaginal atresia occur as a part of a syndrome. Healthcare professionals may perform a blood test to test for the syndrome.
A person may not receive a diagnosis of vaginal atresia until they reach puberty.
A female entering puberty may experience:
- a small dimple or pouch where the vaginal opening would be
- a lack of periods
- abdominal pain that appears in cycles
Scans of the pelvic area may show a pelvic mass if the upper vagina is filled with menstruation blood.
Treatment typically includes surgery to create a new vagina or the use of vaginal dilators.
Vaginal dilators are small round tubes that a person presses against the vaginal area. A person will need to do this for 15–20 minutes a day.
Some people may find this easier to do after a bath, as the skin will be soft and will stretch well. Vaginal dilators may better suit those who have a dimple in the vaginal area.
Vaginoplasty
According to a
There are two types of vaginoplasty a surgeon may perform:
- Skin graft method: This involves taking skin from the buttocks and placing it over a mold to create the vagina. The surgeon will then make a small cut where the vagina should be and insert the mold. This makes the inside of the vagina.
- Bowel vaginoplasty: This involves removing a part of the large colon. The surgeon will then close one end of the bowel and sew the colon onto the remnant of the vagina. This will serve as the vaginal opening. A surgeon will place a mold in the vagina for 3 days.
Alternatively, a surgeon may perform a pull-through vaginoplasty. A surgeon can stretch the existing part of the vagina to create an opening. This works best for gaps of less than 3 centimeters. Where the gap is bigger than this, a person may require a skin graft.
If vaginal atresia has not affected the uterus and ovaries, it may be possible for a person to conceive and have a baby. The authors of a 2020 case study noted that a person who underwent a vaginoplasty for vaginal atresia was able to have a child. They were also able to have a satisfying sex life.
Vaginal atresia occurs when the urogenital sinus fails to form the lower part of the vagina during fetal development.
A baby that has been born with vaginal atresia most often has one of the following syndromes:
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)
According to the National Organization of Rare Disorders (NORD), MRKH is a rare condition that affects females.
Healthcare professionals characterize the condition by the failure of the vagina and uterus to develop. People will still have a typical ovarian function and external genitalia.
Although research has supported the theory that MRKH is a genetic condition, it has not yet identified which genetic changes cause its development.
Bardet-Diedl syndrome
NORD notes that this genetic condition affects many parts of the body. People may experience:
- additional fingers or toes
- loss of vision
- having obesity around the waist
- kidney issues
- intellectual impairments
Fraser syndrome
This is another rare syndrome, and a person may experience:
- blindness due to skin completely covering the eyes
- hearing loss
- missing openings, such as the anus or the vagina
- kidney issues
- problems with the voice box and lungs
- umbilical hernia
- learning difficulties
Fraser syndrome occurs due to changes to the FRAS1, FREM1, FREM2, or GRIP1 genes, which play a role in skin development and placement.
A person can undergo surgery to treat vaginal atresia. Risks of surgery include vaginal stenosis or partial blockage, which may require more surgery to correct. Vaginal stenosis is when the vagina narrows and shortens due to the development of fibrous tissue.
Depending on the severity of the condition, a person may still be able to have children if they choose to.
Vaginal atresia does not typically affect the outer genitalia. The clitoris should still be intact, and a person will be able to have a satisfying sex life.
Vaginal atresia occurs when the urogenital sinus does not form the lower part of the vagina during fetal development.
It may or may not affect the uterus, ovaries, and fallopian tubes.
Symptoms include a lack of menstruation, abdominal pain, and a dimple or pouch where the vagina should be. A person may also experience a pelvic mass filled with menstruation blood.
A person can undergo surgery to treat vaginal atresia. Nonsurgical methods include self-dilation.
After treatment and depending on the severity of the condition, a person may still be able to give birth and have a satisfying sex life.