Congenital Anomalies of the Vagina

Transverse Vaginal Septum

A transverse vaginal septum is a horizontal “wall” of tissue that has formed during embryologic development and essentially creates a blockage of the vagina. A transverse vaginal septum can occur at many different levels of the vagina. A large percentage of women with a transverse vaginal septum have a small hole or fenestration within the transverse vaginal septum, so they may have regular menstrual periods, although the periods may last longer than the normal 4-7 day cycle. During an examination, a woman may find that she has a normal hymeneal opening and a lower vagina. As one enters the vagina there will be a fibrous wall of tissue and this is the transverse vaginal septum. Above the transverse vaginal septum, there is a normal vagina. If there is a complete obstruction without a hole within the transverse vaginal septum, then if a woman is having menstrual cycles there is a blockage of the blood and it will collect in the upper vagina.

A transverse vaginal septum will most likely require a surgical procedure to resect the fibrous septal tissue. The gynecologist who performs the surgery must be familiar with the risk of complications of a transverse vaginal septum due to the fact that there can be stenosis or scarring of the vagina in the area of the transverse vaginal septum which can create a “hour-glass” effect to the vagina. After resection of the transverse vaginal septum, the woman may be required to use a vaginal dilator in order to avoid this “hour-glass” effect of the healing process. Once the transverse vaginal septum has been surgically corrected, the woman should be able to have normal sexual relations and should also have no long term effects on reproductive function and the ability to have a child.

Vertical or Complete Vaginal Septum

The vagina normally forms as two tubes meeting in the midline with fusion resulting in the creation of a single vagina. At times there are fusion abnormalities which result in a complete vaginal septum which is a wall running vertically up the vagina, essentially creating two vaginas. A woman may identify that she has a complete vaginal septum when she utilizes a tampon and identifies that she still has blood coming from the vagina even with the tampon in place. She may thus elect to use two tampons, one in each vagina. Alternatively she may notice that the vaginal orifices are too small to insert a tampon. Other women have no symptoms from a complete vaginal septum and with sexual activity the vaginal septum may be torn, thus creating one vagina. Other women notice that during sexual activity a penis will go towards one side or the other due to the fact that one side of the vagina may be larger than the other side.

A complete vaginal septum can be surgically resected. During a resection of a complete vaginal septum, the entire fibrous wall of the septum be removed. The gynecologist should be aware that if the entire septum is not removed there may be a fibrous band of tissue running on the top and bottom of the vagina. This could result in discomfort with sexual activity. It is thus my approach that the entire septum is removed and the normal vagina on both sides of the preexisting septum are brought together to create a normal texture to the vagina.

Women with a complete vaginal septum also have duplication of the upper reproductive tract and thus have two uteri and two cervices (see below congenital anomalies of the uterus and congenital anomalies of the cervix).

Vaginal Agenesis

Vaginal agenesis, or absence of the vagina, is a congenital disorder of the female reproductive tract. It affects approximately 1 in every 5,000 female infants. The cause of vaginal agenesis is unknown. A woman with complete vaginal agenesis may have this abnormality based on the fact that the vagina did not grow during embryologic development and this is called Mayer-von Rokitansky–Küster-Hauser’s syndrome. There are many variations to this syndrome; a woman may have no vagina and no uterus, (in which case she would however have normal ovaries) alternatively, she may have no vagina and may have a single midline uterus and no cervix. If this is the case she will not have periods that will allow flow of blood out of her body as she has no cervix and no vagina. With menstruation and shedding of the endometrial lining, the blood would go in a retrograde fashion. Women with a midline uterus and vaginal agenesis have options for correction of this problem which include: 1) suppression of retrograde menses with the utilization of a continuous oral contraceptive pill with preservation of the uterus in the midline so that she could potentially carry a pregnancy with the utilization of assisted reproductive technologies and a planned abdominal delivery (cesarean section). Alternatively, surgical procedures have been described to create a communication between a vagina which is created and the upper uterus. There have been cases where this has been successful, although there have been numerous cases where this has resulted in an infection and the need for a hysterectomy, additionally, there have been 4 reported deaths from this procedure. Thus, in my practice it is my recommendation that a woman with vaginal agenesis with a midline uterus and no cervix would go through a procedure for creating a functional vagina for sexual relations (see below) and would maintain her uterus with the utilization of continuous oral contraceptive pills to suppress retrograde menses and the risk of endometriosis. She would thus be a candidate for reproductive technologies with the utilization of GIFT for the placement of the eggs and sperm within the fallopian tubes for possible pregnancy. The birth of the child would require a cesarean section.

Women with vaginal agenesis can also have small rudimentary uterine horns which are lateral to the midline. These uteri can also function, if they contain an endometrial stripe women with rudimentary uterine horns can also be managed in a similar fashion to what is described above, for women with a single midline uterus.

As described above women with vaginal agenesis may or may not have uterine structures. All women with Mayer-von Rokitansky-Küster-Hauser’s syndrome do have functional ovaries. These women have normal development of breasts and pubic hair and make normal female hormones. For management, the goal would be to create a vagina for sexual activity and then the option for reproduction would involve the utilization of assisted reproductive technologies using her eggs and her partner’s sperm and placing them within a gestational carrier, or surrogate.

Vaginal agenesis can be diagnosed on physical examination with additional information gathered from ultrasound or MRI. The differential diagnosis includes androgen insensitivity, which is described above. Women with vaginal agenesis from Mayer-von Rokitansky–Küster-Hauser’s syndrome have a karyotype of 46, XX which is the most common for women. Thus obtaining a karyotype can also be helpful in making a definitive diagnosis; additionally a testosterone level can also be helpful in making a diagnosis. Women with Mayer-von Rokitansky–Küster-Hauser’s syndrome will have a testosterone level in the “normal female range”, and women with androgen insensitivity will have a testosterone level in the “normal male range”.

Women with vaginal agenesis will need to create a vagina to have normal sexual function. There are numerous options for creation of a vagina. It is our recommendation that we initially start with the utilization of vaginal dilators to create a functional vagina. The dilator is pushed against the area where the vagina should be located, and with constant pressure on a daily basis, a woman can create a functional vagina. It should be noted that a woman with vaginal agenesis can have normal orgasmic function as the clitoris and the external genitalia are formed normally. The vagina should have normal vaginal lubrication if the vagina is created with the utilization of vaginal dilators. The process of vaginal dilatation with the utilization of dilators can take between 6 months and two years, depending on the frequency of the utilization of the dilators.

Alternatively, a vagina can be created with the utilization of a skin graft and this procedure is called a McIndoe procedure. A split thickness skin graft is taken from the buttock and a space is created for the placement of vaginal mold with the skin graft affixed to it. This is a surgical procedure and the woman needs to remain at bed rest in the hospital for approximately 7 days, in order for the skin graft to “take”. At the end of the 7 day period, the woman is taken back to the operating room for removal of the mold which is used to create the vagina. Once the mold is removed, then the woman is asked to use a vaginal dilator on a continuous basis to avoid stricture of the skin graft and the newly created vagina. The utilization of a skin graft can thus result in a normal, functional vagina. Some women find that they need to utilize water-based lubricants for sexual activity, as the skin of the newly created vagina may be dry.

Another option for creation of a vagina is with the utilization of bowel. Many pediatric and general surgeons use bowel for the creation of a vagina in cases of vaginal agenesis. This procedure requires a laparotomy and a resection of a piece of bowel with a reapproximation of the intestine. The bowel is placed in the area which is created for the vagina. Some women with a “bowel vagina” complain of a chronic vaginal discharge as the gasterointestinal mucosa of the bowel constantly produces mucus. These women may find that they need to wear a pad continuously throughout life. Additionally, concerns exist regarding the utilization of bowel for the creation of a vagina due to the risk of sexually transmitted diseases and the fact that bowel is a poor protective barrier against sexually transmitted diseases when compared to skin.

MRKH

MRKH (Mayer-von Rokitansky-Küster-Hauser's Syndrome) is a congenital condition of the female reproductive system that affects approximately 1 out of every 5,000 females. Girls diagnosed with MRKH have vaginal agenesis, which refers to an absent or incomplete vagina. The uterus is also very small or absent. It is important to understand that young women with this syndrome are genetic females. They have normal ovaries and will experience puberty without having periods. MRKH is a syndrome that may or may not be associated with renal (kidney), skeletal and hearing problems.

Agenesis of the Lower VaginaIt may occur that a woman is born with the absence of the lower vagina. This means that she may have a normal uterus, cervix and upper vagina but there is a blockage with the absence of the lower vagina. If there is agenesis of the lower vagina and there is a normal, functional upper vagina and uterus, than the upper vagina will fill with blood during menstruation. This can create a large pelvic mass which is the distended upper vagina. It is my recommendation that a surgical procedure be performed when the upper vagina is filled with blood so that the upper vagina can be brought down to the area where a normal vaginal opening should occur. This is called a “pull-through vaginoplasty.” A pull-through vaginoplasty will thus create a normal vagina. The tissue of the upper vagina which has been distended with blood has been expanded so that the upper vagina can now reach the lower vagina. If this procedure is not performed when the upper vagina is filled with blood, than there may not be enough vaginal tissue to bring it down to the area of the hymeneal opening. If this is the case, then someone may need a procedure with the placement of a skin graft or section of bowel in order to create a normal length to the vagina. Once a normal vagina has been created a vaginal dilator may need to be worn in order to decrease the risk of circumpherential scar tissue formation. Once corrected, a woman with agenesis of the lower vagina should have normal reproductive function and fertility.

LEARN MORE ABOUT BRIGHAM AND WOMEN’S HOSPITAL


For over a century, a leader in patient care, medical education and research, with expertise in virtually every specialty of medicine and surgery.

About BWH