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REVIEW ARTICLE
Year : 2017  |  Volume : 10  |  Issue : 6  |  Page : 510-516  

Magnetic resonance imaging in diagnosis and classification of uterovaginal congenital anomalies


Department of Radiodiagnosis, Dr DY Patil Medical College, Hospital and Research Center, Dr DY Patil Vidyapeeth, Pune, Maharashtra, India

Date of Submission26-Apr-2017
Date of Acceptance03-Jul-2017
Date of Web Publication17-Jan-2018

Correspondence Address:
Dr. Pratiksha Yadav
Dr. D. Y. Patil Medical College and Research Center, Pune, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/MJDRDYPU.MJDRDYPU_89_17

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  Abstract 


Uterine congenital anomalies are clinically relevant because these are associated with increased incidences of infertility and menstrual disorder. These are frequently not diagnosed at birth. These anomalies usually diagnosed at child-bearing age when reproductive malfunction arise. When normal mullerian duct development interrupted at any stage, it results in mullerian abnormality. Magnetic resonance imaging (MRI) has an excellent role in evaluation of mullerian duct anomalies. Ultrasonography is the primary investigation; however, MRI is an excellent noninvasive investigation for accurate evaluation of uterine congenital anomalies. MRI is a very good modality to evaluate the vaginal malformation, which usually difficult to evaluate by ultrasound.

Keywords: Congenital, infertility, mullerian, uterus, vagina


How to cite this article:
Yadav P. Magnetic resonance imaging in diagnosis and classification of uterovaginal congenital anomalies. Med J DY Patil Univ 2017;10:510-6

How to cite this URL:
Yadav P. Magnetic resonance imaging in diagnosis and classification of uterovaginal congenital anomalies. Med J DY Patil Univ [serial online] 2017 [cited 2018 Apr 25];10:510-6. Available from: http://www.mjdrdypu.org/text.asp?2017/10/6/510/223375




  Introduction Top


Congenital anomalies of uterus, cervix, and vagina are usually not diagnosed at birth. Most of these developmental disorders are associated with normal functioning ovaries and normal external genitalia. These anomalies usually diagnosed at the time of puberty or after the puberty, young women often present with menstrual disorder. It may present late with infertility or obstetric complications. Mullerian duct anomalies (MDA) result from the nondevelopment or defective fusion or failure of resorption of the paramesonephric (mullerian) ducts. The prevalence of female genital tract anomalies is 4%–7% in general population [1] and up to 8%–10% in women who have recurrent pregnancy loss.[2],[3] Incidence of mullerian duct anomaly is approximately 1% in general population and it is approximately 3% in patients with infertility.

MRI technique - MRI of female pelvis and uterus performed on high-field strength MRI with local-phased array coils (1.5 Tesla Siemens Avonto). Images were obtained using 256 × 256 matrix, 32 cm field of view, and 4 mm slice thickness. Images were obtained in axial, coronal, and sagittal planes to evaluate the uterine contour, endometrium, and vagina.


  Classification Top


Most widely used classification of mullerian duct anomaly is American Fertility Society (AFS) classification that was proposed by Buttram and Gibbons in 1979 and modified by AFS in 1988. This was published in 1988.[4] This classification is most widely accepted schematization and addresses uterovaginal anomalies [Figure 1].[5] According to this classification, it is classified into seven classes depending on the defect in the embryological development.
Figure 1: Diagrammatic representation of mullerian agenesis or hypoplasia (Class I mullerian duct anomalies): (a) vaginal agenesis, (b) cervical agenesis, (c) fundal agenesis, (d) tubal agenesis, (e) combined

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Other authors suggested an alternative system for these anomalies.[6]

It can be classified into three categories: (1) duct agenesis or hypoplasia, (2) defects of vertical fusion of the ducts with the ascending urogenital sinus, and (3) defects of lateral duct fusion.[5] Mullerian duct anomaly may manifest with primary amenorrhea. Magnetic resonance imaging (MRI) is useful in evaluation of uterus, cervix, presence or absence of vaginal anomalies, and associated renal anomalies.

MRI is the investigation of choice for evaluation of mullerian duct anomaly due to its high accuracy and detailed delineation of uterovaginal anatomy.

MRI has a reported accuracy of up to 100% in the evaluation of MDA.[7],[8],[9] It is noninvasive and nonionizing investigation is an added advantage.

Renal tract anomalies are associated with MDA in approximately 30% of cases [10] because of close embryonic relation between paramesonephric and mesonephric ducts. Most common is renal agenesis.[10] Renal duplication, duplication of collecting system, crossed renal ectopia, or horseshoe kidney may occur.[5]

It may present with infertility, spontaneous abortion, premature delivery, and fetal malposition.

Among all of the müllerian duct anomalies, unicornuate uteri have the highest association of renal abnormalities, present in up to 40% of these women. The renal anomaly is ipsilateral to the abnormal horn.

Most of the MDA have normal functioning ovaries and normal age appropriate external genitalia. These anomalies often present after the onset of puberty as menstrual disorder. Late presentations are infertility and obstetric complications.


  Embryology Top


At 6 weeks of development, both female and male embryos have 2 sets of paired genital ducts: mullerian (paramesonephric) ducts and Wolffian (mesonephric) ducts.[11] In females, the Wolffian ducts degenerate in the absence of the testosterone and mullerian ducts develop. The paramesonephric or mullerian ducts develop bidirectionally along the lateral aspect of gonads. Paired mullerian ducts fused to form a single Y-shaped tubular structure uterovaginal primordium.[12],[13] It consists of uterine and vaginal region. Uterine region gives rise to uterus and vaginal region, the superior 1/3rd of vagina.[12],[13] At this stage, uterus is bicornuate. At 9 weeks, the paramesonephric ducts fuse at their inferior margin forming a single lumen of uterovaginal canal.[5] Regression of the uterine septum has been proposed due to the result of apoptosis, mediated by the Bcl 2.[14] The absence of this gene has been implicated in persistence of the septum.[5] At 12 weeks, the fundus rises and uterus forms its normal configuration. Uterine endometrium arises from the linings of fused mullerian ducts and endometrial stroma and myometrium derive from mesenchyme.[12],[13] At 22 weeks, there is formation of two  Fallopian tube More Detailss, single uterus, and cervix, and the upper 1/3rd of vagina. The sinus tubercle thickens and forms the sinovaginal bulb which gives rise to lower 20% of vagina.[5] Ovaries arise from the mesenchyme and not influenced by the formation of mesonephric or paramesonephric ducts, so it is not associated with MDA.


  Mullerian Duct Anomalies Top


Developmental anomalies of mullerian ducts are very important cause of infertility. There are two paired mullerian ducts develop to form uterus, fallopian tubes, cervix, and upper two-third part of vagina. The lower one-third part of vagina and ovaries are formed by thickened part of posterior urogenital sinus called sinovaginal bulb. MDAs result from interruption of normal development of mullerian duct at any stage. MDAs are classified into seven classes according to AFS [4] [Figure 1].


  Mullerian Agenesis or Hypoplasia Top


Uterus or vaginal agenesis or hypoplasia results from variable degree of failure of paramesonephric ducts to develop. Mayer-Rokitansky-Kuster-Hauser syndrome represents the failure of vaginal development associated with uterine and cervical agenesis or varying degrees of hypoplasia. Symptoms at presentation depend on the presence of the uterine remnants. Complete agenesis presents with the primary amenorrhea, patient may present with primary amenorrhea and cyclical abdominal pain due to cryptomenorrhea and hematometra if functional remnant presents. Patient will show secondary sexual characteristics due to normal ovarian function. Ultrasonography (USG) is the primary investigation; however, a rudimentary remnant may be difficult to evaluate due to limited acoustic window. In 90% of cases, there is complete uterine agenesis [Figure 2]. Ovaries are normal usually. Rudimentary uterus may contain endometrial tissue. Agenesis or hypoplasia can be vaginal [Figure 3], cervical [Figure 4], fundal [Figure 5], tubal or combined [Figure 6]. MRI is an important modality to differentiate the uterine agenesis and hypoplasia. On MRI, uterine agenesis or hypoplasia is best characterize on sagittal image s. Mullerian agenesis results in no identifiable uterus. When functional remnant is present than thin endometrium and myometrium seen with poorly differentiated zonal anatomy.[7] Vaginal agenesis results from the developmental failure of the sinovaginal bulb.
Figure 2: Complete uterine agenesis: Sagittal T2 weighted image showing complete agenesis of uterus and vagina

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Figure 3: T2-weighted image sagittal magnetic resonance imaging showing vaginal agenesis in its inferior two-third causing hematometrocolpos. Uterus and cervix were normal

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Figure 4: Cervical agenesis (Type I b mullerian duct anomalies): (a) Diagrammatic representation of agenesis of cervix, (b) T2-weighted sagittal magnetic resonance image showing cervical agenesis; however, uterus and vagina appear normal. Endometrium also appears normal

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Figure 5: Uterine fundal agenesis (Type I c mullerian duct anomalies): (a) Diagrammatic representation of fundal agenesis. (b) T2-weighted sagittal magnetic resonance image showing agenesis of fundus of uterus; however, cervix and vagina appear normal. Endometrium is thin

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Figure 6: (a) Diagrammatic representation of the combined hypoplasia of uterus, cervix, and vagina (Type I e). (b) T2-weighted sagittal magnetic resonance image showing severe hypoplasia of uterus, cervix, and vagina

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  Unicornuate Uterus Top


Unicornuate uterus is asymmetric anomaly results from nondevelopment or incomplete development of one mullerian duct while the other mullerian duct develops normally to form hemiuterus. Unicornuate uterus accounts about 2%–13% of all mullerian anomalies.[15],[16] Abnormal uterine horn can be completely absent (1/3rd of cases) or rudimentary (2/3rd of cases) [Figure 7]. If rudimentary horn contains endometrial tissue, it is called as functional rudimentary horn. A noncavitatory rudimentary horn is seen in 33% cases, whereas noncavitatory rudimentary horn with endometrial strip is seen in 32% cases.[5]
Figure 7: Diagram of Class II mullerian duct anomaly: (a) Right-sided unicornuate uterus with communicating rudimentary horn on the left side. (b) Right-sided unicornuate uterus with noncommunicating rudimentary horn on left side. (c) Right-sided unicornuate uterus with left-sided rudimentary horn though no endometrial cavity seen left side. (d) Right-sided unicornuate uterus, no uterine horn seen on left side

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A cavitatory rudimentary horn can be communicating with the contralateral cavity or can be noncommunicating. Clinical symptoms depend on functioning or nonfunctioning rudimentary horn. If nonfunctional rudimentary horn is present, the diagnosis is incidental or diagnosed on infertility workup. When rudimentary horn has endometrial strip, then the adolescent girl presents with cyclical pain, dysmenorrhea, and hematometra. On MRI, unicornuate uterus appears as banana-shaped (curved and elongated) uterus [Figure 8].[17] Uterus volume is reduced with narrow endometrial cavity. When nonfunctional rudimentary horn is present, then there is absence of endometrial hyperintense signal intensity on T2-weighted image (T2WI). When functional rudimentary horn is present, it shows a cavity with collection in the endometrial cavity after puberty [Figure 9].
Figure 8: Unicornuate uterus (Type II mullerian duct anomalies): (a) Diagrammatic representation of unicornuate uterus on the right side. Coronal T2-weighted image showed right-sided unicornuate uterus, left cornu of the uterus is absent. (c) Axial short tau inversion recovery image showing the right-sided unicornuate uterus. (d) T2-weighted coronal image showing associated absence of left kidney in the same patient

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Figure 9: Unicornuate uterus (Type II mullerian duct anomalies) and Unicornuate uterus with noncommunicating rudimentary horn on left side. (a) Diagrammatic representation (b) T2-weighted magnetic resonance coronal image showing noncommunicating rudimentary left horn, blood seen in the rudimentary endometrial cavity shown by blue arrow. (c) Axial short tau inversion recovery and (d): Axial T2-weighted image showing left-sided noncommunicating rudimentary horn

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  Uterine Didelphys Top


Complete failure of the fusion of the mullerian duct results in the two separate right and left hemiuteri and cervix [Figure 10]. It accounts for 5% of MDA. Both hemiuterus and cervix demonstrate normal zonal anatomy with minor degree of fusion at the level of cervices.[5] There is no communication seen in the endometrial cavities. A longitudinal vaginal septum is associated with the 75%.[18] Women with uterine didelphys have normal or nearly normal fertility.
Figure 10: Uterine didelphys (Type III mullerian duct anomalies) (a) Diagrammatic representation of uterine didelphys, (b and c) Coronal short tau inversion recovery and T2-weighted image showing two separate uterine bodies and two cervices. Junction of the two separate cervices is shown by black arrow (d) Axial T2-weighted image showing two separate uterine bodies

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  Bicornuate Uterus Top


Bicornuate uterus is incomplete fusion of uterovaginal horns at the level of fundus. It represents approximately 10% of MDAs. Women with bicornuate uterus are asymptomatic; however, they have high incidence of spontaneous abortion (28%–35%) and premature birth (14%–23%)[16],[19] The lower uterus and cervix are completely fused, resulted in the two completely separate communicating endometrial cavities with single cervix and vagina. Depending on the length of intervening cleft or muscular septum, it is classified into bicornuate bicollis or unicollis. When the cleft extends to the internal cervical os, it is called bicornuate unicollis [Figure 11]. When the cleft extends to the external os, it is called as bicornuate bicollis. On MRI, the bicornuate uterus shows two completely separate cornue with a cleft of at least 1 cm in the external fundal contour [Figure 11]. Endometrial to myometrial ratio and zonal anatomy are maintained. It can be treated with transabdominal metroplasty if they have repeated pregnancy loss.
Figure 11: Bicornuate uterus (Type IV mullerian duct anomalies) (a) Diagrammatic representation of bicornuate uterus. (b) Coronal T2-weighted image showing two separate symmetrical uterine bodies which fuse at cervical level and form single cervical cavity. (c) Axial T2-weighted image at uterine body level showing two separate uterine bodies. (d) Axial T2-weighted image showing that they unite at cervical level to form single cervix

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  Septate Uterus Top


Septate uterus is most common mullerian duct anomaly. It represents approximately 55% of MDAs.[3] It results due to partial or complete failure of resorption of uterovaginal septum after the fusion of paramesonephric ducts. A fibromuscular septum is incompletely resorbed after mullerian duct fusion. It may result in first trimester miscarriage. The septate uterus is associated with increased premature birth rates. Configuration of the external uterine contour is important to differentiate the septate to bicornuate uterus. Two measurements that may be helpful include the intercornual distance and intercornual angle. In a septate uterus, the intercornual distance is <4 cm and the intercornual angle is <60° as compared with the bicornuate uterus, in which these values are >4 cm and >60°, respectively.[7],[9] Differentiation between septate and bicornuate uterus is necessary as septate uterus can be treated by hysteroscopic resection of septum though bicornuate uterus rarely needs surgical intervention. On MRI, septate uterus shows normal size though each endometrial cavity appears smaller in size. There is partial [Figure 12] or complete [Figure 13] fibromuscular or fibrous septa seen in the uterine cavity. Intercornual distance <4 cm has been used to differentiate septate from bicornuate uterus.[5] MRI is very good in evaluation of the septum extent and its fibrous and muscular component.
Figure 12: Septate uterus (Type V a mullerian duct anomalies). (a) Diagrammatic representation of partial septa, which is seen only in the uterine fundus (b) Axial short tau inversion recovery image of partial septate uterus, septa seen only in fundus though lower uterine segment, and cervix seen as single cavity

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Figure 13: Septate uterus (Type V mullerian duct anomalies) (a) Diagrammatic representation of complete septate uterus (b) short tau inversion recovery coronal image showing complete muscular longitudinal septum seen in uterus extending till cervix and vagina, (c) T2-weighted image coronal image showing longitudinal intramuscular septum in the uterine body. (d) Axial T2-weighted image showing fibromuscular septum at uterus level (blue arrow) and (e) at cervical level

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  Arcuate Uterus Top


Arcuate uterus is characterized by an indentation in the superior aspect of the uterine fundus due to near-complete resorption of the uterovaginal septum. Classification of this anomaly is problematic because it is not clear whether it should include in the mullerian anomaly or it should consider as a normal variant.[5] In the classification system of Buttram and Gibbons, it was subclassified as mild variety of bicornuate uterus.[16] AFS designated a separate class for that because it can be distinguished from the bicornuate uterus on the basis of its complete fundal unification.[4] On MRI, external contour of the uterus is maintained and a broad smooth indentation seen in the uterine fundus with signal intensity similar with the myometrium. The fundal indentation is smooth and broad [Figure 14].
Figure 14: Type VI arcuate uterus: (a) Diagrammatic representation of arcuate uterus (b) Axial T2-weighted image showing arcuate uterus, indentation seen in superior aspect of uterus though external contour of the uterus is maintained

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  Class Vii: Diethylstilbestrol-Related Anomalies Top


It is seen in women who were exposed to diethylstilbestrol in utero. Diethylstilbestrol is a synthetic nonsteroidal estrogen, which was prescribed from 1941 to 1971 to women who had recurrent miscarriages. It causes T-shaped uterus or uterus hypoplasia [Figure 15]. Uterine anomaly was present in 69% of women exposed to diethylstilbestrol (DES).[20] These women have higher rates of spontaneous abortion, preterm labor, and ectopic pregnancies than women who did not have uterine anomalies after exposure to DES.
Figure 15: Type VII: Diagrammatic representation of uterus anomaly due to diethylstilbestrol drug exposure. It is showing T-shaped uterus with hypoplasia

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  Obstructed Uterovaginal and Vaginal Septum Anomalies Top


Vaginal agenesis and vaginal septum anomalies causing obstruction are also seen in the spectrum of the MDAs. Transverse vaginal septum is a vertical fusion defect that can occur anywhere in vagina; however, it is commonly occurring at the junction of upper and middle third.[21],[22] This causes hematocolpos in patients with functioning endometrium.

Defects of lateral fusion may give rise to longitudinal septa. It is most often associated with septate and duplication anomalies and usually causes unilateral obstruction.[20] In cervical agenesis, lower uterine segment narrowed and give funneled appearance. There is hematometra in the absence of hematocolpos. HSG is not very useful in the vaginal septal defect. USG shows distended vagina and endometrial cavity with cystic mass along with diffuse internal echoes. MRI is an important modality to evaluate as ultrasound is limited because of field of view and distortion of normal anatomy due to hematometrocolpos. MRI is an excellent modality to evaluate the vaginal anomalies. On MRI, hematocolpos show distended vagina with blood, which demonstrates as increased signal intensity on T1-weighted images T1WI and variable signal intensity on T2WI [Figure 16]. When uterine cavity is filled with blood, then it is hematometra. When there is blood seen in both vagina and uterus, then it is hematometrocolpos.
Figure 16: Anomalies of vagina (a) short tau inversion recovery sagittal magnetic resonance image showing hematocolpos in a case of vaginal agenesis. (b) Short tau inversion recovery sagittal magnetic resonance image showing hematometra in a 15-year-old girl with transverse vaginal septum. (c) Short tau inversion recovery sagittal magnetic resonance image showing hematometrocolpos in a 14-year-old girl with vaginal hypoplasia and imperforate hymen

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  Complex Uterovaginal Anomalies Top


Mullerian defects are result of various types of nonfusion, deficient development sometimes in the complex manner.AFS classification is widely accepted and broadly used classification; however, there are various complex uterovaginal anomalies which cannot be categorized in AFS. Subtle changes, few complex uterovaginal anomalies, duplication defects, and ectopic mullerian tissue are not included in the AFS. Mullerian agenesis can be seen with duplication of vagina [Figure 17] which cannot fit in AFS classification. The need for a new updated classification is underlined. The initiative is adopted by recently established common ESHRE/ESGE working group of experts (CONUTA group).
Figure 17: Complex uterovaginal anomalies: (a) Coronal short tau inversion recovery magnetic resonance image of a 3-year-old girl showing the absence of the uterus and vagina and there was complete duplication of vagina seen. (b) Axial T2-weighted image magnetic resonance image showing two hyperintense tubules posterior to bladder turn out to be two separate vaginas

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  Conclusion Top


MRI is an excellent noninvasive investigation to accurate estimation of morphology of uterus, cervix, and vagina in the congenital anomalies, which is very important in the treatment planning.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Chan YY, Jayaprakasan K, Zamora J, Thornton JG, Raine-Fenning N, Coomarasamy A. The prevalence of congenital uterine anomalies in unselected and high-risk populations: A systematic review. Hum Reprod Update 2011;17:761-71.  Back to cited text no. 1
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Stray-Pedersen B, Stray-Pedersen S. Etiologic factors and subsequent reproductive performance in 195 couples with a prior history of habitual abortion. Am J Obstet Gynecol 1984;148:140-6.  Back to cited text no. 2
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The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, müllerian anomalies and intrauterine adhesions. Fertil Steril 1988;49:944-55.  Back to cited text no. 4
    
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Li S, Qayyum A, Coakley FV, Hricak H. Association of renal agenesis and Mullerian duct anomalies. J Comput Assist Tomogr 2000;24:829-34.  Back to cited text no. 10
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Larsen WJ. Development of the urogenital system. In: Sherman LS, Potter SS, Scott WH, editors. Human Embryology. 3rd ed. New York: Churchill Livingstone; 2001. p. 277-9.  Back to cited text no. 11
    
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Buttram VC Jr., Gibbons WE. Müllerian anomalies: A proposed classification. (An analysis of 144 cases). Fertil Steril 1979;32:40-6.  Back to cited text no. 15
    
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Sarto GE, Simpson JL. Abnormalities of the Müllerian and Wolffian duct systems. Birth Defects Orig Artic Ser 1978;14:37-54.  Back to cited text no. 18
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Kaufman RH, Adam E, Binder GL, Gerthoffer E. Upper genital tract changes and pregnancy outcome in offspring exposed in utero to diethylstilbestrol. Am J Obstet Gynecol 1980;137:299-308.  Back to cited text no. 20
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16], [Figure 17]



 

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  In this article
Abstract
Introduction
Classification
Embryology
Mullerian Duct A...
Mullerian Agenes...
Unicornuate Uterus
Uterine Didelphys
Bicornuate Uterus
Septate Uterus
Arcuate Uterus
Class Vii: Dieth...
Obstructed Utero...
Complex Uterovag...
Conclusion
References
Article Figures

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