Vaginal agenesis is a rare congenital disorder wherein a woman is born without either a vagina and uterus or an underdeveloped vagina and uterus. It is a rare condition that affects 1 out of every 5000 women. This condition makes intercourse and having a baby impossible.
Along with vaginal agenesis, there may also be other issues such as skeletal, kidney, or heart abnormalities. Surveys show that around 30 out of every 100 women with vaginal agenesis have kidney abnormalities such as having only one kidney or one or both kidneys being dislocated. The kidneys may also be joined to show a horseshoe shape. About 12 of every 100 females with vaginal agenesis have atypical skeletons and 2 of 3 of these females have problems with their limbs, ribs, or spine.
Women with vaginal agenesis have normal external genitalia. They might also have a vaginal opening that is 1 to 3 cm deep, known as “vaginal dimple”. They also have functioning ovaries, most of the time.
Vaginal agenesis might be a symptom of broader conditions, that include–
Mayer-von Rokitansky-Küster-Hauser’s (MRKH) Syndrome – MRKH syndrome is the most common form of vaginal agenesis. This condition causes the vagina and the uterus to be either underdeveloped or absent in a woman. It also causes other abnormalities.
MURCS association – In this condition, apart from MRKH syndrome abnormalities, there are other abnormalities also present including kidney defects, short stature, and spine abnormalities.
Complete androgen sensitivity syndrome (AIS) – In this condition, individuals have a normal female appearance but lack a uterus, ovaries, fallopian tubes, cervix, and vagina.
Mixed gonadal dysgenesis
There are two types of MRKH syndrome –
Generally, there aren’t any obvious symptoms of vaginal agenesis. Hence, it goes unnoticed in most cases, until a girl reaches puberty but doesn’t start menstruating. This is known as amenorrhea. They might experience cramping and abdominal pain due to the buildup of menstrual flow being obstructed due to a missing vagina. If you don’t get your menstrual period by the age of 15, you should consult a doctor. If vaginal agenesis is due to MRKH syndrome, then the individual might experience these symptoms –
The exact cause of vaginal agenesis is unknown. It is present at birth and occurs when the baby’s reproductive system fails to develop fully when she’s in her mother’s womb. In females with MRKH syndrome, some changes in several genes that are associated with development before birth have been identified in females. However, it is unclear whether these changes cause MRKH syndrome or vaginal agenesis. Research is ongoing regarding the causes of vaginal agenesis.
It is also not clear why individuals have abnormalities affecting parts of the body other than the reproductive system, as seen in Type 2 MRKH syndrome.
Vaginal agenesis isn’t usually diagnosed until puberty when a girl has developed breasts and pubic hair, however hasn’t got her menstrual periods. This is because outward genitalia appears normal. To diagnose vaginal agenesis, a physical exam including a pelvic exam and thorough medical history is performed. Additional tests such as blood tests for MRKH syndrome, an ultrasound to create images of the internal reproductive organs and abnormalities, and an MRI to obtain a clearer and more detailed image, are also performed.
Sometimes, vaginal agenesis can be diagnosed in babies, if their parents or doctor discover that there is no vaginal or anal opening. It can also be diagnosed in a young girl if she is being examined for a suspected kidney problem.
There are various treatment options available for vaginal agenesis, that your doctor will recommend, based on your condition, including –
Non-surgical treatment methods –
Self-dilation – The first treatment option that doctors recommend is self-dilation. This method may allow women to create a vagina without requiring surgery. In this method, women with vaginal agenesis are required to press a dilator against their skin or inside their existing vagina for 30 minutes to two hours a day. This leads to the creation of a neovagina. The best time to do this is after a warm bath since the skin stretches more easily after this. After a few weeks, you can switch to larger dilators. It might take a few months to achieve your desired results.
Dilation through intercourse – Another option for non-surgical treatment of vaginal agenesis could be vaginal dilation through sexual intercourse. Artificial lubrication might be required and there may be bleeding and pain as side effects, especially in the beginning.
Surgical treatment methods – Surgery to create a functional neovagina is suggested when non-surgical treatment methods don’t work. Usually, surgical treatments are recommended when females can handle follow-up dilation. Vaginoplasty surgery can be done in various ways -
Continuous dilation (Vecchietti procedure) – In this method, an olive-shaped device is placed at the vaginal opening to create a vaginal passageway. This device is then connected to a traction device placed on the lower abdomen, laparoscopically. This traction device is tightened every day. Due to this, the olive-shaped device gets pulled inward and a neovagina is created in about one week. It is a minimally invasive technique and the results achieved are similar to that of self-dilation but in a faster time frame. To maintain the neovagina, regular self-dilation and/or intercourse is recommended.
Using skin graft (McIndoe Procedure) – In this procedure, skin is taken from your buttocks to create a neovagina. An incision is made where the vagina is to be created by the surgeon. Then, the surgeon inserts the skin graft to create the structure for the neovagina. A mould is then placed in the newly formed canal. This mould stays for a week. After this, you will have to use a vaginal dilator, which is to be removed while using the bathroom or having sexual intercourse. After three months, the dilator should be used only at night. Sexual intercourse and regular self-dilation are recommended to maintain a functional vagina.
Using a portion of the colon (bowel vaginoplasty) – In this procedure, the surgeon diverts a portion of the colon to an opening in the genital area to create a new vagina. Then, the remaining colon is reconnected. After this surgery, you won’t need to use a vaginal dilator every day and artificial lubrication is also not required as often for intercourse.
Vaginal pull-through technique – In this method, an incision is made by the surgeon in the tissue in the lower vagina. The incision is made until the upper normal vaginal tissue is reached. The mucosa is then pulled downward and after excising excessive fibrous tissue, attached around the hymeneal ring without tightness.
Balloon vaginoplasty – In this method, balloon dilation is used to create space in the rectovesical fascia to create a neovagina.
Using buccal mucosa – In this method, the buccal mucosa is used as the lining of the new vagina. It has superior healing properties, hence, the recovery time is shorter and there is minimal to no scarring. However, the damage to the mouth while performing the removal of mucosa and a tight and short vagina due to insufficient buccal tissue should be considered.
William’s vaginoplasty – In this method, the labia minora are stitched together to create a pocket that becomes the neovagina. The neovagina is too small, hence, modifications are required in this procedure such as the use of labial tissue to form a deeper pouch that would allow comfortable intercourse.
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