Vaginal anomalies

Isolated anomalies Some anomalies are found upon examination shortly after birth or when the development of sexual characteristics does not progress as expected. Defects that prevent menstrual flow become obvious when amenorrhea occurs. Syndromes Syndromes may take longer to identify since they are rare and often involve errors in metabolism. Many syndromes share the same signs and symptoms. Associated uterine defects Uterine defects can accompany vaginal abnormalities: • Müllerian agenesis (absent uterus). Uterus is not present, vagina only rudimentary or absent. Anomalies associated with syndromes Some congenital syndromes present with vaginal anomalies in association with other serious conditions. These include Fraser syndrome, WNT4 deficiency, and Bardet-Biedl syndrome,--> Diethylstilbestrol (DES), also known formerly (and inappropriately) as stilboestrol, is a synthetic nonsteroidal estrogen and teratogen that can cause vaginal abnormalities in the developing embryo. == Cause ==

The cause of isolated cases of vaginal anomalies can not always be identified, though disruption of the embryonic development of the vagina likely plays a significant role. == Diagnosis ==

Imaging studies are usually the most useful in diagnosing vaginal anomalies including retrograde contrast studies. An anomaly scan can be helpful, especially detecting the presence of a urogenital syndrome. Genetic and metabolic defects require further testing to support a diagnosis. == Treatment ==

Vaginal anomalies are treated surgically. A 'neo-vagina' can be constructed for those girls and women who do not have a vagina. Vaginal septa are treated surgically. The most common vaginal anomaly is an imperforate hymen. This anomaly occurs often enough that it can be detected by some pediatricians shortly after birth. It can be corrected through a minor surgery and may be delayed until puberty. The hymen can be unusually thick or partially obstructed by the presence of fibrous bands of tissue. An imperforate hymen can also present with other abnormalities such as septa. An imperforate hymen can be displaced and its location may not be where it is expected. Other abnormalities of the hymen can exist including the presence of septa, displacement and a hymen that consists of microperforations. Uncommonly, a double hymen is present. The imperforate hymen is treated by excision and drainage. Sometimes a small border of hymenal tissue is left around the opening of the vagina. Congenital adrenal hyperplasia can cause the abnormal development of the vagina. Vaginal adenosis is the abnormal presence of cervical and uterine tissue within the wall of the vagina. Ten percent of women have this condition and remain unsymptomatic. It rarely develops into a malignancy. Cloacal exstrophy is a condition when two vaginas are present. Vaginal agenesis or the complete absence of the vagina affects 1 out of 5,000 women. A hemivagina is the abnormal presence of a partial vagina that is attached to the wall of the functioning vagina. The hemivagina does not open to the normal vagina and is attached to an abnormal, second uterus. Vaginal hypoplasia is the under-development of the vagina and is found in instances of complete androgen insensitivity syndrome. Vaginal septa are structures consisting of fibrous tissue that block the vagina. The tissue extends horizontally, blocking or partially blocking the vaginal canal or transversely essentially creating two vaginas that connect to a normal uterus. Septa can prevent menstrual flow and result in painful intercourse, though some women do not have symptoms. Many vaginal anomalies are not detected at birth because the external genitalia can appear to be normal. == Epidemiology ==

The occurrence of vaginal defects varies widely and some are only known from case studies. The prevalence of an imperforate hymen is 1 in 1000. == History ==

Notable is the mention of vaginal anomalies and pelvic organ prolapse in older cultures and locations. Hippocrates also described the prolapse of other organs out through the vagina. In 1823, other physicians proposed that vaginoplasty may provide treatment for pelvic organ prolapse. In 1830, the first dissection of the vagina was performed on a living woman. Other vaginal repairs were described in 1834 and treatment sometimes the suturing the edges of a vaginal defect. In 1859 a solution to vaginal elongation was to remove the cervix. In 1866, methods that resembled those used today came into practice. Surgery on the anterior vaginal wall at this time did not have to involve full-thickness repairs to be successful. Sim subsequently developed another procedure that did not require the full-thickness dissection of the vaginal wall. Shortly after this time it was proposed that reattaching the vagina to support structures was more successful and resulted in less recurrence. This same proposal was proposed again in 1976 but further studies indicated that the recurrence rate was not better. Further advances in 1961 began when surgeons started to reattach of the anterior vaginal wall to Cooper's ligament. In 1955, surgical mesh began to be used to strengthen pelvic tissue. In 1970, tissue from pigs began to be used to strengthen the anterior vaginal wall in surgery. Beginning in 1976, improvement in suturing began along with the surgical removal of the vagina being used to treat prolapse of the bladder. In 1991, assumptions about the detailed anatomy of the pelvic support structures began to be questioned regarding the existence of some pelvic structures and the non-existence of others. More recently, the use of stem cells, robot-assisted laparoscopic surgery are being used during vaginectomy and vaginoplasty. == See also ==