We provide comprehensive gynecologic care for females from birth to age 22 with the following conditions:
Congenital Malformations of the Vulva
Labial Hypoplasia
Labial Hypertrophy
Congenital Anomalies of the Hymen
Imperforate Hymen
Microperforate Hymen
Septate Hymen
Congenital Anomalies of the Vagina
Transverse Vaginal Septum
Vertical or Complete Vaginal Septum
Vaginal Agenesis
MRKH
Agenesis of the Lower Vagina
Obstructed Hemi-Vagina with Ipsilateral Renal Agenesis (OVIRA)
Congenital Anomalies of the Cervix
Cervical Agenesis
Cervical Hypoplasia
Cervical Duplication
Congenital Anomalies of the Uterus
Uterine Duplication
Unicornuate Uterus
Septate Uterus
Uterine Agenesis
Congenital Malformations of the Vulva
Labial Hypoplasia
For unclear reasons, one or both labia may not develop normally. This may be evident in childhood or may only be evident through pubertal development as one side develops normally and the other side is noted to be smaller or absent. The labia function as fat pads and specifically function as protection from trauma. The absence of one or both labia have no long term medical implications. For women with labial hypoplasia, sexual function is normal as the clitoris and clitoral hood are normal. If a woman is bothered by the fact that one labia is markedly larger than the other, than the “normal” sized larger labia could be reduced to match the size of the smaller or nonexistent labia.
Labial Hypertrophy
For unclear reasons, one or both labia may grow to larger sizes. Enlargement of the labia can result in irritation, chronic infections, pain, interference with sexual activity, and/or interference with activity involving vulvar compression such as horseback riding. In addition, some women complain of a “bulge” in their underwear or bathing suit from the enlarged labia and this may be cosmetically displeasing. Women who have labial hypertrophy without symptoms require no surgical intervention and it is my practice to reassure people that this is a normal variance and requires no intervention. If women are symptomatic from the labial hypertrophy than the labia can be surgically reduced to an appropriate size for the individual.
Congenital Anomalies of the Hymen
The hymen is an area of tissue that represents the opening to the vagina. The hymenal tissue is a ring-like form of tissue which has a hole within the center, present at birth.
Imperforate Hymen
When no hymenal opening is present, a membrane covers the area of the hymen and this is called an imperforate hymen. An imperforate hymen needs to be surgically corrected. An imperforate hymen is usually diagnosed either in the newborn baby or at the time of menarche (the first period). In the newborn period there may be a bulge of the hymenal membrane due to a blockage of the drainage of normal mucus from the baby’s vagina. The baby has mucus production due to the mother’s hormones which are still circulating within the baby’s bloodstream. The mother’s estrogen stimulates the production of mucus within the baby’s vagina. Due to the blockage, the mucus cannot drain and thus a white bulge may appear at the location of the normal opening to the vagina. Alternatively, an imperforate hymen may not be identified until some point in childhood or at the time of a normal first menstrual period. A young woman with an imperforate hymen which has not been surgically corrected will not have a normal menstrual period as there is a blockage and the blood cannot come out of the vagina. This blockage may be associated with abdominal pain, back pain, or difficulty with urination.
An imperforate hymen can be surgically corrected in the newborn period with a resection of the excess hymeneal tissue. Alternatively an imperforate can be corrected at the time of diagnosis in childhood or during the time of the first menstrual period. The procedure is normally a “day surgery” type of procedure and it is my practice to remove the excess hymeneal tissue and place sutures to avoid scar tissue formation and a reblockage of the hymeneal orifice. Once the imperforate hymen has been surgically removed there should be no long term issues. The vagina will function normally, the woman will be able to have sexual intercourse and her history of having an imperforate hymen does not interfere with her ability to have future children.
Microperforate Hymen
A microperforate hymen is essentially an imperforate hymen with a very small hole within it. The hole may be large enough for mucus and/or blood to come through the hymeneal opening, but instead of having a regular menstrual period lasting 4-7 days, the woman may have a period which lasts longer due to the fact that the blood cannot come out at a normal rate. A microperforate hymen may resolve spontaneously and the opening may get larger as a child becomes older, alternatively if a young woman who has a microperforate hymen attempts to insert a tampon she may have pain or the inability to insert the tampon. If she attempts to have sexual intercourse, she may have pain and the excess hymeneal tissue may tear. A surgical approach can be undertaken to resect the excess hymeneal tissue.
Septate Hymen
A septate hymen refers to a band of extra hymeneal tissue running vertically in the area of the normal hymen. A hymeneal septum may interfere with a woman’s ability in insert a tampon or she may find that she can insert the tampon but once it expands with blood, she cannot remove the tampon. A hymeneal septum does not have to be surgically removed and if a woman attempts to have sexual intercourse with a septate hymen it will usually tear. This may be associated with some discomfort, pain, or bleeding. A simple surgical approach can be undertaken to remove the septate hymen, thus creating a normal hymeneal orifice.
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 Vagina
It 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.
Obstructed Hemi-Vagina with Ipsilateral Renal Agenesis (OVIRA)
Congenital Anomalies of the Cervix
Cervical Agenesis
Some women have cervical agenesis which means that they are born without a cervix. In this case, they may or may not have a uterus and they may or may not have a vagina. If there is cervical agenesis with a uterus present, then the options are: 1. maintain the uterus as it is with suppression of retrograde menses with the utilization of continuous oral contraceptive pill or, 2. a surgical procedure to connect the uterus to a vagina which is either present from birth or has been created. As noted above, (please see “Vaginal Agenesis”), this procedure can be associated with complications. Options for fertility are listed above under “Vaginal Agenesis.”
Cervical Duplication
As noted above, the reproductive tract forms as two tubes which meet in the midline and are intended to fuse. There are cases where fusion does not occur and two cervices can result as with two uteri. This may or may not be associated with a complete vaginal septum (which is described above). A woman with two uteri and two cervices can have a normal reproductive life. She will need a pap smear performed from each cervix, one marked right and one marked left. She does have normal reproductive function, although based on the fact that she has two uteri, each of which is smaller than a normal single uterus, she is at risk for premature labor and also for breech presentation (which means that the baby is coming out feet first) which would most likely necessitate a cesarean delivery.
Congenital Anomalies of the Uterus
Uterine Duplication
As noted above, the uterus forms as two tubes and comes to the midline and forms as one. A woman with two uteri may have one cervix or two cervices as noted above. A woman with two uteri can have normal reproductive function but she is at increased risk for premature delivery of a fetus and she is also at increased risk of breech presentation which may necessitate a cesarean section.
Unicornuate Uterus
A unicornuate uterus is one half of a uterus that forms with a cervix and is usually connected to the vagina. This uterus will function normally although the woman is at risk for premature delivery of a fetus and for breech presentation which may necessitate a cesarean section. Sometimes with a unicornuate uterus there is a second smaller hemi-uterus which is obstructed, meaning that the endometrial cavity within the obstructed uterus does not have a means for the blood to egress or leave the body. This can result in pain. It may be difficult to diagnose an obstructed unicornuate uterus and it may only be diagnosed with the utilization of ultrasound, MRI or a laparoscopy. An obstructed hemi-uterus can be removed if there is a normal unicornuate uterus on the other side. The resection of the obstructed hemi-uterus can be performed laparoscopically.
Septate Uterus
A uterus may have a normal shape but it may have a wall in the center dividing it into two cavities. This can be surgically corrected. Women with a septate uterus are also at risk for premature labor and breech presentation.
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