Vaginal agenesis, also known as Mullerian agenesis, Mullerian aplasia, Bardet-Biedl syndrome, Fraser syndrome, or Mayer-Rokitansky-Kuster-Hauser syndrome, is a congenital birth defect in which the vagina is either short, doesn’t develop fully, or be absent altogether. In this condition, it is also not uncommon to have a small uterus, a partially developed one, or a total absence of the uterus. This condition is rare; only 1 out of 5000 women are diagnosed with it at puberty when they do not start menstruating.
Also Read: Vaginitis: Causes, Symptoms And Treatment
Vaginal agenesis usually occurs before birth and may also be associated with problems related to the kidney or skeletal framework. Although a rare disorder, it is possible to treat Vaginal agenesis using a Vaginal dilator (a tube-like device that can stretch the vagina when used over a period of time) to successfully create a vagina. In some cases, surgery might be required if the vagina and uterus are totally absent, and a full-fledged treatment makes it possible to have vaginal intercourse without pain or discomfort.
Causes
Although the exact cause of vaginal agenesis is still unclear, studies show that at some point during the first 20 weeks of the gestational period during pregnancy, tubes called the Mullerian ducts don’t develop properly as they should. The lower portion of these Mullerian ducts usually grow into the uterus and vagina, whereas the upper part forms the fallopian tubes. It is due to the underdevelopment of the Mullerian ducts that results in an absent or partially closed vagina, uterus, or both.
Symptoms
The characteristic symptom of Vaginal agenesis is often related to a condition called ‘amenorrhea’ which is the lack of menstrual cycle during puberty. Although girls with vaginal agenesis grow like normal individuals, they usually experience the following signs and symptoms, which includes:
- Vagina may be short without a cervix at the end, or absent and marked only by a slight indentation where typically a vaginal opening should be located
- Ovaries are typically fully developed and functional, but they may be located in an unusual place in the abdomen
- Sometimes, even the fallopian tubes (the pair of tubes through which the eggs travel from the ovaries to the uterus are absent or do not develop fully)
- Painful amenorrhea (seen in girls with a uterus)
- Painless amenorrhea (seen in girls without a uterus)
- Abdominal pain and intense cramping (due to build-up of menstrual fluid from the obstruction caused owing to the missing vagina)
- Formation of a pelvic mass (if the upper vagina fills with menstrual blood)
- Normal appearance of genitals
In some cases, Vaginal agenesis often causes other symptoms, including:
- Issues with the development of the kidneys and urinary tract
- Structural changes in the bones of the spine, ribs, and wrists
- Problems with hearing
- Other congenital conditions that also involve the heart, gastrointestinal tract, and growth of limbs
Complications
In case Vaginal agenesis is not treated on time, it often disrupts the routine life of many women. It also impacts the sexual relationship with the partner and often leads to women failing to bear a child.
Diagnosis And Treatment
Vaginal agenesis is typically diagnosed during puberty when the menstrual periods don’t start as usual, even after one has already developed breasts and has underarm and pubic hair. Sometimes vaginal agenesis can also be diagnosed at an earlier age during an evaluation for other problems or when the parents or the doctor notices that the baby has no vaginal opening.
If you notice any of the above-mentioned signs and symptoms in yourself or your child, consult a gynecologist at the earliest. The doctor does a thorough physical checkup, conducts the following diagnostic measures:
Blood Tests: To rule out other conditions to assess the levels of hormones and chromosomes.
Ultrasound: To find out whether the patient has a uterus and ovaries and identify if there are any problems related to the kidneys
Magnetic Resonance Imaging: to get a detailed picture of the reproductive tract and kidneys
Other Testing: To examine the hearing abilities, heart, and skeleton condition
Treatment
Treatment usually depends upon the consent of the girl. While some girls start their treatment while they are teens, others wait a little longer and only undergo it when they want to become sexually active. Treatment usually involves two methods:
Self Dilation: This treatment is done for girls who have an indentation at the place of the vagina. In this case, a tiny tube called a dilator is pressed against the skin for about 15 – 20 minutes a day, usually, after a bath, when the skin is soft and stretches well.
Surgery: The surgical procedure can be done in two ways; Skin graft method (vagina is made using a graft of skin or buccal mucosa), and Vaginoplasty (vagina is created using a part of the large intestine).
