eMedicine Specialties > Radiology > Obstetrics/Gynecology
Uterus, Mullerian Duct Abnormalities
Updated: Oct 16, 2009
Introduction
Background
Müllerian duct anomalies are an uncommon but often treatable cause of infertility. Patients with müllerian duct anomalies are known to have a higher incidence of infertility, repeated first-trimester spontaneous abortions, fetal intrauterine growth retardation, fetal malposition, preterm labor, and retained placenta. The role of imaging is to help detect, diagnose, and distinguish surgically correctable forms of müllerian duct anomalies from inoperable forms. In some correctable lesions, the surgical approach is altered based on imaging findings.1,2,3,4,5,6,7,8,9,10
Uterus, müllerian duct abnormalities. T2 fast spin-echo MRI image of septate uterus acquired in the oblique plane along the long axis of the uterus. Note that the outer fundal contour (superior border) is flat or slightly concave, which is sufficient to make the diagnosis of septate uterus.
Uterus, müllerian duct abnormalities. Septate uterus. Note that a longer septum divides the uterine cavity. Outer fundal contour is flat.
Uterus, müllerian duct abnormalities. MRI image of septate uterus. The patient has a thin, fibrous septum that cannot be resolved distally at the fundus. More importantly, the outer fundal contour remains convex, thus excluding a bicornuate uterus.
Recent cases and studies
Ghi et al found 3-dimensional transvaginal ultrasonography of the uterine cavity to be extremely accurate in diagnosing and classifying congenital uterine anomalies in nulliparous women who had 3 or more consecutive miscarriages. They were able to identify specific mullerian malformations in 54 women, which were all confirmed by endoscopy. Negative findings were confirmed by hysteroscopy. Concordance between ultrasound and endoscopic findings regarding the type of anomaly was verified in 52 cases, including all patients with septate uterus and 2 of 3 patients with bicornuate uterus.11
Bean et al performed a literature study from 1955-2007 regarding women with Mayer-Rokitansky-Kuster-Hauser syndrome (congenital condition in a female born with vaginal agenesis and a rudimentary to absent uterus) to determine the psychological impact and quality-of-life outcomes for women with this condition. They found that surgical or nonsurgical creation of a neovagina alone does not ensure a successful psychological outcome; psychological support at critical times can be helpful; and how professionals use language to discuss the condition may have a positive or negative influence on the patient. They suggest that healthcare professionals will be able to provide better care for such patients by understanding how women cope with and adjust to this condition.12
Diehl et al described a left pelvic sidewall hemiuterus with a ruptured hematosalpinx in a 15-year-old female who presented to the ED with a 40-hour history of acute left-lower-quadrant abdominal pain and nausea. The initial evaluation suggested a left pelvic kidney with an obstructed ureter. The authors stated that the differential diagnosis of acute unilateral abdominal pain in adolescent females should include mullerian anomalies because, although the incidence of this condition is low, evaluation and treatment can be performed expeditiously if the diagnosis is considered. They also noted that the recommended treatment for this malformation is laparoscopic excision of the unilateral noncommunicating uterine horn.13
Frequency
United States
Müllerian duct anomalies are estimated to occur in 0.1-0.5% of women. The true prevalence is unknown because the anomalies usually are discovered in patients presenting with infertility. Full-term pregnancies have occurred in patients with forms of bicornuate, septate, or didelphys uteri; therefore, true prevalence may be slightly higher than currently estimated. Simon et al found that in the healthy fertile population, müllerian duct anomalies have a prevalence of 3.2%.14
Mortality/Morbidity
The presence of a müllerian duct anomaly is not associated with significantly increased mortality compared to the general population. Certain types of the anomaly can increase morbidity, such as in patients with obstructed or partially obstructed müllerian systems who present with hematosalpinx, hematocolpos, retrograde menses, and endometriosis [See also the eMedicine article Endometrioma/Endometriosis]. In addition, a fairly high association exists between müllerian duct anomalies and renal anomalies such as unilateral agenesis. Often, the anomalies are found only when dedicated renal imaging is performed after the müllerian abnormality is discovered; however, these patients most commonly present for medical attention because of infertility and repeated pregnancy loss.
Age
Anomalies may be diagnosed in infancy, adolescence, or young adulthood. Female patients may present with a mass resulting from an obstructed müllerian system as infants (mucocolpos); with primary amenorrhea, mass (hematocolpos), or delayed onset of menarche as adolescents; or with problems of fertility and/or carrying pregnancy to term as adults.
Presentation
Natural history and presentation
Embryology
Two paired müllerian ducts ultimately develop into the structures of the female reproductive tract. The structures include the fallopian tubes, uterus, cervix, and upper two thirds of the vagina. The ovaries and lower one third of the vagina have separate embryologic origins not derived from the müllerian system.
Complete formation and differentiation of the müllerian ducts into the segments of the female reproductive tract depend on completion of 3 phases of development as follows:
- Organogenesis: One or both müllerian ducts may not develop fully, resulting in abnormalities such as uterine agenesis or hypoplasia (bilateral) or unicornuate uterus (unilateral).
- Fusion: The process during which the lower segments of the paired müllerian ducts fuse to form the uterus, cervix, and upper vagina is termed lateral fusion. Failure of fusion results in anomalies such as bicornuate or didelphys uterus. The term vertical fusion occasionally is used to refer to fusion of the ascending sinovaginal bulb with the descending müllerian system (ie, fusion of the lower one third and upper two thirds of the vagina). Complete vertical fusion forms a normal patent vagina, while incomplete vertical fusion results in an imperforate hymen.
- Septal resorption: After the lower müllerian ducts fuse, a central septum is present, which subsequently must be resorbed to form a single uterine cavity and cervix. Failure of resorption is the cause of septate uterus.
Ovaries and the lower vagina are not derived from the müllerian system. The ovaries are derived from germ cells that migrate from the primitive yolk sac into the mesenchyme of the peritoneal cavity and subsequently develop into ova and supporting cells. The lower vagina arises from the sinovaginal bulb, which fuses with the müllerian-derived upper two thirds to form the complete vagina.
Müllerian duct anomalies
Suggestion of a müllerian duct anomaly may arise in different clinical situations. In the newborn or infant, the initial presentation may be an obstructed system discovered as a palpable abdominal, pelvic, or vaginal mass (mucocolpos).15,16
Similarly, an adolescent girl may present to a clinician because of delayed menarche or because of an obstructed system presenting as an intra-abdominal mass (hematocolpos). Many patients also have cyclical pain.
Women of childbearing age often present with various problems of infertility, repeated spontaneous abortions, or premature delivery. As part of an infertility workup, routine imaging often detects the anomaly. Occasionally, the anomaly is discovered incidentally during imaging evaluation for another condition or during surgery such as elective sterilization.
Müllerian duct anomalies are categorized most commonly into 7 classes according to the American Fertility Society (AFS) Classification Scheme17 as follows:
- Class I (hypoplasia/agenesis): This class includes entities such as uterine/cervical agenesis or hypoplasia. The most common form is the Mayer-Rokitansky-Kuster-Hauser syndrome, which is combined agenesis of the uterus, cervix, and upper portion of the vagina.18,19,20,21 Patients have no reproductive potential aside from medical intervention in the form of in vitro fertilization of harvested ova and implantation in a host uterus.
- Class II (unicornuate uterus): A unicornuate uterus is the result of complete, or almost complete, arrest of development of 1 müllerian duct (see Image below and Image 14 in Multimedia). If the arrest is incomplete, as in 90% of patients, a rudimentary horn with or without functioning endometrium is present. If the rudimentary horn is obstructed, it may come to surgical attention when presenting as an enlarging pelvic mass. If the contralateral healthy horn is almost fully developed, a full-term pregnancy is believed to be possible (see didelphys uterus).22
Uterus, müllerian duct abnormalities. Unicornuate uterus. Note the failure of the development of one half of the uterus. This form may be associated with a rudimentary horn arising from the contralateral müllerian duct.
- Class III (didelphys uterus): This anomaly results from complete nonfusion of both müllerian ducts (see Image below and Image 15 in Multimedia). The individual horns are fully developed and almost normal in size. Two cervices are inevitably present. A longitudinal or transverse vaginal septum may be noted as well. Didelphys uteri have the highest association with transverse vaginal septa, but septa also may be observed in other anomalies. Consider metroplasty; however, since each horn is almost a fully developed uterus, patients have been known to carry pregnancies to full term.23
Uterus, müllerian duct abnormalities. Didelphys uterus. Note the complete separation but full development of each müllerian duct.
- Class IV (bicornuate uterus): A bicornuate uterus results from partial nonfusion of the müllerian ducts (see Image below and Image 13 in Multimedia). The central myometrium may extend to the level of the internal cervical os (bicornuate unicollis) or external cervical os (bicornuate bicollis). The latter is distinguished from didelphys uterus because it demonstrates some degree of fusion between the 2 horns, while in classic didelphys uterus, the 2 horns and cervices are separated completely. In addition, the horns of the bicornuate uteri are not fully developed; typically, they are smaller than those of didelphys uteri. Some patients are surgical candidates for metroplasty.
Uterus, müllerian duct abnormalities. Bicornuate uterus. Note the partial fusion of the lower uterine segment and persistently separated upper uterine segments. Of key importance is the prominent fundal cleft (>1 cm), which distinguishes the anomaly from septate uterus.
- Class V (septate uterus): A septate uterus results from failure of resorption of the septum between the 2 uterine horns. The septum can be partial or complete, in which case it extends to the internal cervical os (see Images below and Images 11-12 in Multimedia). Histologically, the septum may be composed of myometrium or fibrous tissue. The uterine fundus is typically convex but may be flat or slightly concave (<1-cm fundal cleft). Women with septate uterus have the highest incidence of reproductive complications. Differentiation between a septate and a bicornuate uterus is important because septate uteri are treated by using transvaginal hysteroscopic resection of the septum, whereas if surgery is possible and/or indicated for the bicornuate uterus, an abdominal approach is required to perform metroplasty.
Uterus, müllerian duct abnormalities. Septate uterus. Midline septum can be of variable length and can be muscular or fibrous. In the diagram, the septum is shown as an extension of the uterine myometrium.
Uterus, müllerian duct abnormalities. Septate uterus. The midline septum can extend for a variable length and can be muscular or fibrous. In the diagram, the septum is thin and linear as expected in the fibrous type. Since the composition of the septum varies, whether it is composed of muscle or fibrous tissue is not a means to distinguish septate from other forms of uterine anomalies.
- Class VI (arcuate uterus): An arcuate uterus has a single uterine cavity with a convex or flat uterine fundus, the endometrial cavity, which demonstrates a small fundal cleft or impression (³1.5 cm). The outer contour of the uterus is convex or flat (see Image below and Image 16 in Multimedia). This form is often considered a normal variant because it is not significantly associated with the increased risks of pregnancy loss and the complications found in other subtypes.
Uterus, müllerian duct abnormalities. Arcuate uterus. Mild thickening of the midline fundal myometrium resulting in fundal cavity indentation but normal outer fundal contour. Some authors consider it a normal variant. It is not associated with an increased risk of obstetric/gynecologic complications.
- Class VII (diethylstilbestrol-related anomaly): Several million women were treated with diethylstilbestrol (DES), an estrogen analogue prescribed to prevent miscarriage from 1945-1971. The drug was withdrawn once its teratogenic effects on the reproductive tracts of male and female fetuses were understood. The uterine anomaly is seen in the female offspring of as many as 15% of women exposed to DES during pregnancy. Female fetuses who are affected have a variety of abnormal findings that include uterine hypoplasia and a T-shaped uterine cavity. Patients also may have abnormal transverse ridges, hoods, stenoses of the cervix, and adenosis of the vagina with increased risk of vaginal clear cell carcinoma. Imaging findings are pathognomonic for this anomaly (see Image below and Image 17 in Multimedia).24
Uterus, müllerian duct abnormalities. Diethylstilbestrol-exposed uterus. Myometrial hypertrophy results in a T-shaped uterine cavity and cavity irregularity, which is pathognomonic for the anomaly. Typically, the uteri are hypoplastic.
- Other classification systems: Other systems (eg, in the surgical literature) classify the anomalies differently. Rock and Adam modified the AFS classification to include a broader collection of anomalies.25
- Class 1 is identical to AFS class I (agenesis/hypoplasia).
- Class 2 pertains to disorders compromising patency of the reproductive tract. This class includes all anomalies in which incomplete fusion occurs between the descending müllerian ducts and the ascending urogenital sinus (sinovaginal bulb). Milder forms may present with only a thin membrane at the junction, while more severe forms result in a thick atretic tissue involving up to one half of the vaginal length. Class 2 anomalies also include obstructive or nonobstructive transverse vaginal septa (although not believed to be a disorder of vertical fusion) and cervical agenesis and dysgenesis with or without obstruction.
- Class 3 describes anomalies in a patent but often duplicated or partially duplicated reproductive tract and includes disorders of lateral fusion such as didelphys, unicornuate, bicornuate, and septate uteri (AFS classes II, III, IV, and V). The disorders arise from impaired fusion and/or septal resorption of fusing müllerian ducts attempting to form the uterus, cervix, and upper vagina. The disorders may present in 1 of 2 forms: a symmetric unobstructed form or an asymmetric obstructed form. The distinguishing feature of the asymmetric obstructed form is observed in the obstructed side, which is always associated with ipsilateral renal agenesis.26 This likely explains why the symmetric obstructed form rarely is encountered, since bilateral renal agenesis is not viable.
- The symmetric unobstructed form is seen in 5 types, including septate, bicornuate, didelphys, DES, and unicornuate uterus with or without rudimentary horn.
- The asymmetric obstructed form is seen in 3 types, including unicornuate with noncommunicating obstructed horn, unilaterally obstructed double uterus, and unilateral vaginal obstruction.
- Class 4 includes all other unusual configurations of vertical-lateral fusion defects to varying degrees as well as anomalies that are difficult to classify.
Preferred Examination
Once a müllerian anomaly is suggested based on evidence from the patient history and physical examination, the clinician may opt for additional imaging workup. Imaging criteria for distinguishing forms of uterine anomalies are based on the configuration of the endometrial cavity—primarily on the configuration of the uterine fundus.27,28
Typically, the first examination ordered is a pelvic ultrasound (US) with transabdominal and, if feasible, transvaginal imaging. Müllerian duct anomalies may be suggested on transvaginal 2-dimensional (2D) sonographic imaging but may not be excluded on the basis of negative US findings. Newer 3-dimensional (3D) sonographic techniques offer relatively higher sensitivity and specificity (see Ultrasound).
Hysterosalpingography (HSG), performed under fluoroscopy, allows evaluation of the uterine cavity and tubal patency. Anomalies may be suggested but positive findings often are nonspecific for precise diagnosis (see Radiograph).
MRI is considered the criterion standard for imaging uterine anomalies. MRI provides high-resolution images of the uterine body, fundus, and internal structure. In addition, it can help evaluate the urinary tract for concomitant anomalies. In the past, intravenous urography was used for this purpose. Most types of uterine anomalies can be diagnosed confidently using pelvic MRI.
Limitations of Techniques
Although US is often the first imaging modality chosen because of its availability, short scan time, and low cost, several limitations are encountered during imaging. Image quality from transabdominal and transvaginal examinations is operator dependent. Overlying bowel gas can confound transabdominal imaging. Transvaginal imaging, although superior to the transabdominal approach, may not always be possible, as in patients with vaginal septa. Image resolution is a limiting factor.
HSG probably is the only imaging modality providing high-resolution imaging of the uterine cavity and fallopian tubes, but it is limited to imaging only the endoluminal contour; therefore, characterization of müllerian anomalies can be difficult. For example, visualization of 2 uterine cavities on HSG does not aid the radiologist in distinguishing septate, didelphys, and bicornuate uteri, which are 3 entities with radically different treatments. Since HSG uses ionizing radiation, ensure that the patient is not pregnant at the time of the examination. In patients who are not pregnant, ovaries receive a small dose of radiation, and the risk to the unfertilized ova is unknown.
MRI provides high-resolution images of the uterine cavity, the configuration of the uterus (body and fundus), and the ovaries. MRI is limited by motion artifact (patient movement, bowel peristalsis) and other features that degrade image quality (eg, metal prostheses, clips, filters) and cannot be performed in some patients (eg, patients who are claustrophobic, have pacemakers, or are obese).
Differential Diagnoses
Other Problems to Be Considered
Congenital renal anomalies
Amenorrhea (primary and secondary forms; diagnosed using endocrinologic blood work)
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References
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Further Reading
Related eMedicine topics
Mullerian Duct Anomalies
Malposition of the Uterus
Surgical Management of Mullerian Duct Anomalies
Infertility
Intrauterine Growth Retardation
Keywords
müllerian duct abnormalities of the uterus, uterine, female reproductive tract, müllerian congenital uterine anomalies, müllerian anomalies, müllerian duct anomalies, Mayer-Rokitansky-Kuster-Hauser syndrome, female reproductive tract developmental abnormalities, paramesonephric developmental abnormalities
