Center for Congenital Anomalies of The Reproductive Tract Conditions We Treat

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Androgen Abnormality/Insensitivity

The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats androgen abnormality/insensitivity. This condition results from the body's inability to accept the effects of testosterone.


Women with androgen insensitivity:

  • are normal women but have a chromosomal makeup of 46, XY which is typically that of a male

  • have normal female external genitalia because their body is unable to process and utilize testosterone appropriately

  • have a normal clitoris, urethra and labia; the lower vagina forms normally

  • do not have a normal forming upper vagina, cervix and uterus because her body makes MIS (müllerian inhibiting substance) which inhibits the growth of these structures

  • have only a lower vagina and will need some form of assistance with the

  • creation of a normal functioning vagina

  • have gonads which will not function to make eggs because they were originally derived from tissue that functions as testes

Puberty

Women with androgen insensitivity go through puberty normally and have normal development of breasts. Due to a normal lack of processing of testosterone, however, they have scant or no pubic hair.

Treatment

Women with androgen insensitivity will need their gonads removed because they can form a malignancy - gonads are at risk for forming dysgerminoma which is a type of germ cell tumor. Once the gonads are removed, these women need hormonal replacement therapy with estrogen. They do not need progesterone because they do not have a uterus.

Congenital Anomalies of The Cervix

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The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats congenital anomalies of the cervix, including cervical agenesis and cervical duplication.

Cervical agenesis

Some women have cervical agenesis which means that they are born without a cervix. 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 include:

  • maintaining the uterus by stopping retrograde menses (backward period) with continuous use of oral contraceptive pills

  • undergoing surgical procedure to connect the uterus to a vagina which is either present from birth or has been created 

Cervical duplication

The reproductive tract forms as two tubes which meet in the midline and intend to fuse. When fusion does not occur, two cervices can result, as well as two uteri. This may or may not be associated with a complete vaginal septum.

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 each uterus is smaller than a normal single uterus. This makes her more at risk for premature labor and for breech presentation (a baby's feet come out first) which would most likely require a cesarean delivery.

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Congenital Anomalies of The Hymen

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The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats 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.


Different hymens:


Imperforate hymen 

When no hymenal opening is present, a membrane covers the area of the hymen and is called an imperforate hymen. An imperforate hymen needs to be surgically corrected. Diagnosis is 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 normal mucus from the baby's vagina being unable to drain. The baby has mucus production due to the mother's hormones which are still circulating within the baby's bloodstream. Due to the blockage, the mucus cannot drain and 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.

Treatment

An imperforate hymen can be surgically corrected in the newborn period with a resection of the excess hymeneal tissue. Alternatively, an imperforate hymen can be corrected at the time of diagnosis in childhood or during the time of the first menstrual period.

The correction is normally a "day surgery" type of procedure and excess hymeneal tissue is usually removed and sutures are used to avoid scar tissue formation and a reblockage of the hymeneal hole. 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 the ability to have future children will be normal.

   

 

 

 

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. This is 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. A young woman, for example, who has a microperforate hymen may attempt to insert a tampon and 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 to 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, creating a normal hymeneal orifice.

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Congenital Anomalies of The Uterus

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The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats congenital anomalies of the uterus, including uterine duplication, unicornuate uterus and septate uterus.

Uterine duplication

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. A woman with two uteri can have normal reproductive function but she is at increased risk for premature delivery of a fetus and is also at increased risk of breech presentation (feet-first delivery) which may require 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 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 an 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 does not need to be surgically corrected unless there is recurrent pregnancy loss. Women with a septate uterus are also at risk for premature labor and breech presentation.

Congenital Anomalies of The Vagina

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The Center for Anomalies of the Reproductive Tract at Boston Children's Hospital treats various congenital anomalies of the vagina, including:

  • transverse vaginal septum

  • vertical or complete vaginal septum

  • vaginal agenesis

  • MRKH

  • agenesis of the lower vagina

  • obstructed hemi-vagina with ipsilateral renal agenesis (OVIRA)   

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. It 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 which 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, when a woman is having menstrual cycles there will be a blockage of blood which will collect in the upper vagina.

Treatment

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 because there can be stenosis or scarring of the vagina in the area of the transverse vaginal septum which can create an "hour-glass" effect in 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 uses a tampon and sees that she still has blood coming from the vagina. She may, therefore, elect to use two tampons - one in each vagina. In other cases, she may notice that the vaginal orifices are too small to insert a tampon.

Other women have no symptoms from a complete vaginal septum. With sexual activity, for example, the vaginal septum may be torn 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.

Treatment

A complete vaginal septum can be surgically resected. During a resection of a complete vaginal septum, the entire fibrous wall of the septum will 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. Therefore, 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 have two uteri and two cervices (see 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 - this is called Mayer-von Rokitansky-Küster-Hauser's (MRKH) syndrome.

There are many variations of this syndrome. A woman may have no vagina and no uterus but have normal ovaries. Or she may have no vagina and may have a single midline uterus and no cervix.

Treatment

Women with a midline uterus and vaginal agenesis have options for correction of this problem which include:

  • Stopping the retrograde menses (backward period): women take an oral contraceptive pill continuously. Their uterus is preserved in the midline so they can potentially carry a pregnancy by using assisted reproductive technologies and a planned abdominal delivery (cesarean section).
     
  • Surgery: women undergo a procedure 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, and a few reported deaths.

At the Center for Congenital Anomalies of the Reproductive Tract, we recommend that a woman with vaginal agenesis with a midline uterus and no cervix goes through a procedure for creating a functional vagina for sexual relations and maintains her uterus by taking a continuous dose of oral contraceptive pills to suppress retrograde menses (backward period) and the risk of endometriosis.

Women with vaginal agenesis can also have small rudimentary uterine horns which are lateral to the midline. (Uterine horns are small uteri that did not form into a single midline regular size uterus. Normally, the uterus always starts as two and comes together, fuses and becomes one uterus.) 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 women with a single midline uterus.

Diagnosis
 
Vaginal agenesis can be diagnosed on physical examination with additional information gathered from an ultrasound or MRI. The differential diagnosis includes androgen insensitivity.

Women with vaginal agenesis from Mayer-von Rokitansky-Küster-Hauser's (MRKH) syndrome have a karyotype of 46, XX which is the most common for women. Obtaining a karyotype, therefore, can also be helpful in making a definitive diagnosis; additionally a testosterone level can also be helpful in making a diagnosis. Women with MRKH 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."

Creating a vagina

Women with vaginal agenesis will need to create a vagina to have normal sexual function. There are numerous options for creation of a vagina, including:

  • Vaginal dilators: the dilator is pushed against the area where the vagina should be located; 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. The process can take between six months and two years, depending on the frequency of the utilization of the dilators.
     
  • Skin grafts: this 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 attached to it. This is a surgical procedure and requires hospital bed rest for seven days. At the end of the seven-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, the woman uses a vaginal dilator. The skin graft can 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.
     
  • Bowel use: the bowel is used to create a vagina. 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 gastrointestinal mucosa of the bowel constantly produces mucus so they must always wear a pad. Concerns also exist about the risk of sexually transmitted diseases because the bowel is a poor protective barrier against STD's.

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

A woman can be born without a lower vagina. 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, the upper vagina will fill with blood during menstruation. This can create a large pelvic mass which is the distended upper vagina.

Treatment

The Center performs a pull-through vaginoplasty 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.

If the pull-through vaginoplasty is not performed when the upper vagina is filled with blood, there may not be enough vaginal tissue to bring it down to the area of the hymeneal opening. If this is the case, we may use 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 scar tissue. 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)


 

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Congenital Malformations of The Vulva

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The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats congenital malformations of the vulva, including labial hypoplasia and labial hypertrophy.

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 development in puberty 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. If women do have problems from the labial hypertrophy, however, the labia can be surgically reduced to an appropriate size for the individual.
   

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Intersex Disorders

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At the Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital, we treat patients with intersex disorders. Someone with an intersex disorder has a mixture of male and female reproductive structures. It is not clear at birth whether the individual is a male or a female.

Marc R. Laufer, MD, director of the Center, is a member of the medical advisory board of the Intersex Society of North America.

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