Scott Chudnoff, MD; Scott G Chudnoff, MD

Disclosures

March 08, 2005

Question

I recently saw a 14-year-old who had primary amenorrhea. Her secondary sexual characteristics were well developed, and she had previously been diagnosed as having uterus didelphys with hematometra bilaterally and absent vagina. She has undergone surgery once, which failed. What would be the best option for her now?

Response from Scott Chudnoff, MD and Scott G Chudnoff, MD

Background

Estimation of the true incidence of congenital uterine anomalies is difficult, with incidence in the general population being quoted as 1:200 to 1:600 in the United States. Uterine malformations from Mullerian duct defects are the most common of the female reproductive tract anomalies. Although teratogenic exposures such as thalidomide, diethylstilbestrol (DES), and radiation have been linked with these abnormalities, the vast majority are likely related to polygenetic and familial factors.

Embryologic Development of Urogenital System

It is necessary to understand some basic embryologic development when approaching these disorders. One of the most important reasons for this is that when a defect occurs along one of the embryonic origins, there is a higher incidence of comorbid conditions related to other genitourinary structures. Therefore, if there is suspicion of a genitourinary abnormality, attention to and examination of the entire genitourinary system are warranted. Additionally, understanding of the embryologic development will give insight into the disorder and the proper way to manage it.

The various embryonic origins of the genitourinary system are listed in Table 1. For our purposes, we will be focusing on the paramesonephric (Mullerian) duct, as this is the origin of the uterus, cervix, and upper vagina. The Mullerian ducts are bilateral structures that eventually fuse in their caudal portions to form the uterovaginal primordium. When Mullerian-inhibiting substance is not present, as is the case with females since the testis produces it, the Mullerian duct will subsequently differentiate into the uterus and fallopian tubes. Eventually, the most caudal tip of the Mullerian duct contacts the urogenital sinus (around the 10th week of development), with the hymen representing the separation of these two embryonic structures after differentiation is completed.

With this basic understanding of embryologic development, we can begin to understand the origins of uterine and vaginal anomalies. The process is typically related to 1 or both of 2 embryologic accidents: failure of Mullerian ducts to fuse at a particular point and/or failure of the tubes to fully descend to the urogenital sinus, as demonstrated in Figure 1. Classification systems exist to help group the abnormalities together; the most prominent is that of the American Fertility Society. In TeLinde's Operative Gynecology , a modified, more detailed version of the American Fertility Society's system is presented (Table 2), with important implications related to disorders of a particular class. The most important examples in this system are the asymmetric-obstructed disorders of the uterus and vagina, as these tend to be associated with ipsilateral renal agenesis.

Figure 1. Development of the Mullerian ducts. Reproduced with permission from Scott Chudnoff, MD.

The abnormality of fusion can occur at any point along the Mullerian ducts, either at an isolated junction or involving the entire duct. The implication of a fusion abnormality will determine the subsequent anomaly. Therefore, if fusion failure occurs at the level of the uterus, multiple uterine anomalies may result depending on the quantity of fusion failure. This can range from a small partial septum to a complete duplication of the uterus into separate structures (Figure 2). In a didelphic uterus, there are 2 completely separate horns and cervices present. There are multiple other orientations relating to the way communication between the 2 sides of the uterus occurs; however, further discussion is beyond the scope of this review.

Figure 2. Spectrum of abnormal uteri. Reproduced with permission from Scott Chudnoff, MD.

The abnormality of descent or complete formation of the Mullerian duct will typically result in absence of a structure. It can occur unilaterally or bilaterally. In the unilateral circumstance, we may see only a unicornuate uterus. In one of the most severe forms, known as Rokitansky-Kuster-Hauser (RKH) syndrome, there is a congenital absence of the vagina, cervix, and uterus; although some tissue remnants of the uterus and cervix may be present. Testicular feminization syndrome that has an XY karyotype can usually be differentiated from RKH that has an XX karyotype relatively easily after puberty because of the development of secondary female characteristics in the latter. This differentiation has particular clinical importance in that patients with testicular feminization will typically have undescended testis that should be removed given the high rate of testicular cancers in this population. RKH patients typically have normal ovaries and should subsequently be left alone.

Diagnosis

A majority of uterine anomalies may go unnoticed until puberty, particularly those that do not involve the external genitalia or lower genital tract. The ones typically discovered at puberty are those that involve a septum causing an outflow blockage, with subsequent menstrual abnormalities, including amenorrhea, hypomenorrhea, and dysmenorrhea. Most will likely be unrecognized until attempts at childbearing, when patients present with fertility problems, as these uterine anomalies are not easily discovered on routine gynecologic exams unless there are abnormalities in the vagina and cervix.

Once an anomaly is suspected, imaging is typically undertaken to differentiate among the abnormalities. MRI is typically the most accurate in diagnosis and classification of the anomaly, followed by transvaginal ultrasound and hysterosalpingogram (HSG). Although HSG is the least accurate, it will give information regarding tubal patency, although it may not be possible to perform if there is a lower abnormality prohibiting uterine entry from the vagina. Hysteroscopy and laparoscopy can be employed to help with the diagnosis as well as potential treatments, with similar shortcomings related to hysteroscopy to those seen with HSG. Also, it would be necessary to employ both methods to differentiate a septum from a bicornuate uterus.

Management

Management of these conditions typically relates to 3 primary issues: menstrual problems, fertility problems, and sexual function problems. The presence and severity of these areas along with the type of anomaly present will help dictate the appropriate management. It should be stated that the mere presence of an abnormality does not necessitate treatment unless the patient is symptomatic as a result of it.

Menstrual disturbances typically relate to outflow anomalies most commonly represented by a transverse or blocking septum, but also seen with absence of the vagina or cervical anomalies. In these circumstances, menstrual blood builds up behind the blockage and can result in pain. Additionally, it is has been found that patients with blocked outflow are at increased risk of developing endometriosis -- likely secondary to increased retrograde menses. The major concern in treating these patients is to create a passageway for the menses to flow.

As mentioned previously, infertility is probably the most common presenting complaint in these patients. This may be the result of problems relating to fertilization (due to blockage of the sperm's path), implantation, or pregnancy maintenance. The type of abnormality will guide the approach to treatment. Many assisted reproductive techniques are now available. Sexual function can be affected in a couple of ways. The most obvious is in the situation of a complete absence of the vagina. In this circumstance, normal intercourse would be impossible and creation of a neovagina may be appropriate. In the case of both a transverse and longitudinal septum, a physical barrier may make intercourse difficult, painful, or even impossible, as the caliber and length of the vagina may be altered.

After consideration of the above primary areas, a decision can be made by both the patient and physician as to how to proceed. In cases of minor abnormalities, such as a uterine partial septum or even a complete septum, hysteroscopic resection can be an appropriate choice, particularly if fertility is an issue. Vaginal septum, if the patient is symptomatic, can usually be treated with a simple resection if small.

In cases of absence of the vagina, surgical and nonsurgical methods can be used to create a neovagina. An appropriate choice in this circumstance depends on the presence or absence of a uterus. If the uterus is present, then creation of the neovagina, along with a communication to the cervix, would be important if menstrual abnormalities exist. If these do not exist, or if there is no uterus, then the nonsurgical methods should be employed initially. The nonsurgical approach entails the use of subsequently larger vaginal dilators to stretch the area where the vagina is to be created. Multiple surgical procedures have been described. The McIndoe surgical procedure for vaginal agenesis is the most well known. A space is dissected between the rectum and the bladder, and a split-thickness skin graft from the buttocks is used to form the vagina; a specially crafted dilator at the time of the procedure creates continuous dilation of the vagina while the graft heals. Other procedures include Williams vulvovaginoplasty, musculocutaneous flaps, and free intestinal grafts. The decision of which approach to take is dictated by the patient's characteristics and needs.

Given the major advances in infertility treatments, it is possible to perform an IVF cycle through the myometrial wall. Therefore, a direct connection of the uterine cavity to the vagina through the cervix may not be an issue when considering fertility problems. When fertility is not an issue and the patient is suffering from menstrual problems, hysterectomy can be a consideration.

Only the number of anomalies that we encounter limits the potential treatment strategies. Whichever path is taken, it is critical that all of the primary issues mentioned previously are considered. Of foremost importance is a discussion with the patient to understand her needs and wants before embarking on any treatment.

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