During the development of a woman’s reproductive organs, the urogenital sinus forms the lower part of the vagina. In some cases, this urogenital sinus fails to form, which results in the formation of a vaginal atresia. A pelvic mass filled with menstrual blood is a common symptom of this condition. Surgical treatments can be used to create a new vaginal opening or to repair the defect.
Vaginal atresia can be a congenital malformation, which is present at birth, or it can be discovered later in life. It can affect either the uterus or the ovaries, but it usually does not affect the outer genitalia. This is a rare condition, with only about 1 in every 10,000 to 4,000 women affected. Generally, the symptoms of this disorder are not recognized until puberty.
A diagnosis of vaginal atresia is often made by a doctor examining the girl’s genitals. This examination may be done with an ultrasound or magnetic resonance imaging (MRI) scan. The genital examination is important in distinguishing the condition from other genital anomalies, such as hematocolpos. If hematocolpos are present, a lateral bulging cystic mass is present at the introitus. A blueish bluish-colored bulging membrane may also be present.
Other vaginal atresia types include the transverse vaginal septum, which is present in the lower one-third of the vagina. In patients with this type of atresia, the proximal part of the vagina is blocked, and the distal portion is replaced with fibrous tissue. In these cases, a pelvic mass is typically present, as is a cyclic abdominal pain.
Other obstructive uterovaginal anomalies can also present with pelvic pain, and recurrent vaginal discharge. These are not medical emergencies, and should be managed by gynecologic care providers. However, patients with these anomalies should be monitored for signs of vascular disorders. They should also be counseled on postoperative dilation. Preoperative dilation can thin the distance between the proximal and distal vaginas, and can decrease the need for grafts.
In some cases, the absence of a vaginal atresia can be discovered when a girl reaches puberty. The doctor can also diagnose a genital atresia by physical examination, which may include the use of a vaginal dilator to increase the diameter of the vagina. This dilator must be used for approximately 15 minutes daily.
In addition, a pelvic MRI or CT scan can be performed to identify the presence of a fibroid or pelvic mass. This may be associated with a number of genital anomalies, including Bardet-Biedl syndrome, which is characterized by kidney and eye problems. MRIs can also be used to identify abnormalities in the uterine horn.
Affected babies may have an underdeveloped uterus, as well as other problems with the ribs, spine, and limbs. This condition is often associated with the Bardet-Biedl syndrome, but may occur alone. This syndrome is caused by changes to the FREM1 and FRAS1 genes. The baby will also have an underdeveloped urinary tract. A child with Fraser syndrome may have abnormalities in the urine tract.
