Vaginal atresia
Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia.
[medical citation needed] Researchers believe in patients with vaginal atresia, tubes known as the Müllerian ducts do not develop correctly within the first 20 weeks of gestation/pregnancy.
[1] Vaginal atresia is found to occur when the urogenital sinus does not contribute to the formation of the lower portion of the vagina.
[medical citation needed] As previously mentioned, there are other disorders or syndromes that are found in conjunction with individuals living with vaginal atresia.
[clarification needed][2] This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1.
A genetic mutation occurs causing a substitution of leucine to proline residue at position 12 on the amino acid in the WNT4 protein.
Additionally, steroidogenic enzymes such as 17α-hydroxylase and 3β-hydroxysteriod dehydrogenase are inhibited because of this mutation, which leads to an excess amount to androgen in the system.
[8] Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity.
The abnormal development of the vagina results in an incomplete unit (low, mid, high transverse septum), failure of epithelium degeneration (imperforate hymen), and vaginal atresia.
[4] The description of vaginal atresia mechanism can be explained in several steps of development of the uterovaginal canal per the information provided by these medical professionals.
The formation of the uterovaginal canal is thought to occur from the caudal to the cephalic portion, all while the urogenital sinus is used to create the epithelial lining.
While the mesenchyme that surrounds the structures transitions into musculature of the genital tract, the fallopian tubes are formed via the cephalic remnants of the Müllerian duct.
[4] Females who have both Rokitansky-Mayer-Küster-Hauser syndrome and uterovaginal atresia are theorized to have a failing caudal development within the Müllerian ducts.
In the event that the condition is not caught shortly after birth, vaginal atresia becomes more evident when no menstrual cycle is occurs.
A regular evaluation of children born with an imperforate anus or anorectal malformation should be paired with the assessment of the results from these tests.
Frank's procedure is a technique that used a progressive series of vaginal dilators that are inserted into the dimple of the vagina while using pressure.
[medical citation needed] Frank's procedure can be performed directly by the patient, therefore requiring no surgery or anesthesia.
There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition.
Individuals with this syndrome may be born with a uterine remnant (tiny uterus), which can become filled with blood in the pelvic cavity causing pain.
