Vaginal hypoplasia is a birth defect characterized by underdeveloped or reduced sized vagina, primarily due to a reduced number of cells.
What is vaginal hypoplasia?
Vaginal hypoplasia is a type of sexual development disorder that is often associated with kidney, heart, or skeletal abnormalities. Such disorders occur when the vagina is incompletely developed (hypoplasia) or completely absent (vaginal agenesis). Although the condition is present at birth, it mostly remains undiagnosed until a teen reaches her puberty and realizes that she is not menstruating.
A teen with vaginal hypoplasia may also have other abnormalities in the reproductive tract, such as undeveloped or partially developed uterus. Regarding prevalence, 1 out of 5,000 – 7,000 women can have this birth defect; if diagnosed on time, a complete cure is possible.
Kidney problems are very common in these patients (30%). The most common abnormalities are absence of one kidney or dislocation of one or both kidneys. In some cases, two kidneys can be fused together to form a horseshoe-like shape.
Moreover, about 12% of patients suffer from skeletal abnormalities; 2 out of 3 patients may also have minor problems with the spine, ribs, or limbs.
What causes vaginal hypoplasia?
Although the exact etiology is unknown, it is believed that the abnormal development of the Mullerian ducts during the first 20 weeks of pregnancy may be responsible for the abnormal vaginal development. During normal embryonic development, one of the Mullerian ducts forms the vagina and uterus, and the other forms the fallopian tubes.
Many congenital problems can also be associated with the development of this genetic defect. About 90% of vaginal agenesis patients are born with Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH). Such patients may have different clinical characteristics. For example, some patients are born without a vagina and uterus, whereas others are born with a midline uterus but without a vagina and cervix.
Besides MRKH, about 7-8% of patients are born with a relatively uncommon condition called androgen insensitivity syndrome (AIS). Although have a normal female appearance, these patients usually do not have the vagina, cervix, uterus, fallopian tubes, and ovaries.
What are the symptoms?
The signs and symptoms of vaginal hypoplasia are associated with a lack of menstruation during puberty. This condition is medically known as amenorrhea. Teens with amenorrhea usually maintain a normal growth and development. However, they may experience certain medical issues. For example, teens who have a uterus can suffer from painful amenorrhea, whereas teens without a uterus, who do not menstruate, can experience painless amenorrhea.
Since the vagina is absent or incomplete, an accumulation of menstrual flow can occur in teens with a uterus because of a lack of connection between the uterus and vaginal canal. This can lead to monthly cramping and abdominal pain.
Vaginal hypoplasia/agenesis can also affect the sextual activities and fertility, depending on the organs affected. It may be possible for a teen with a normal-sized uterus to become pregnant and deliver a baby. A teen with healthy ovaries can also have a baby via in vitro fertilization, using a gestational carrier (surrogate mother).
What are the treatment options?
Treatment for vaginal hypoplasia/agenesis mainly includes creating a vagina. A teen usually seeks medical help during her teenage years. The mode of treatment depends primarily on the clinical characteristics of a patient.
The most effective and standard treatment for teens with MRKH is self-dilation. In this method, a rod-like plastic structure (dilator) is pressed against the skin (where a vagina should be present) for 15 - 30 minutes a day. It helps stretch the vagina to a normal length without undergoing a surgery.
If self-dilation does not work, a doctor may recommend surgery to create a functional vagina (vaginoplasty).
In skin graft method, skin from patient’s buttocks is used to create a vagina. An incision is made in the vaginal area, and the skin graft is inserted to make the structure. Next, a mold is placed in the newly formed vaginal canal. The mold is removed after a week of surgery.
In bowel vaginoplasty, a portion of the lower colon is diverted to a genital area opening to create a vagina. The remaining colon is reconnected afterward. A mold is placed in the newly formed vaginal canal for 3 days.
In the Vecchietti procedure, an olive-shaped medical device is placed in the vaginal opening. Using a laparoscope as a guide, the device is connected to a separate traction device located on the lower abdomen. A patient needs to tighten the traction device every day to gradually pull the olive-shaped device inward. This will help create a vagina within a week.