Role of Imaging in Rare Obstructive Reproductive Tract ... · the various mullerian abnormalities, obstructive reproductive tract anomalies (ORTA) form an interesting and difficult

IMAGING

Role of Imaging in Rare Obstructive Reproductive Tract Anomalies:an Enigma—a Case Report

Pranav Kumar Santhalia1 & Nimisha Agrawal2 & Subhash Kumar3 & Prem Kumar3

Accepted: 19 May 2020# Springer Nature Switzerland AG 2020

AbstractMullerian duct anomalies (MDAs) result from abnormalities occurring during the embryologic development of mullerian ducts.Among the various mullerian abnormalities, obstructive reproductive tract anomalies (ORTA) form an interesting and difficult groupto diagnose. This case series emphasize the role of imaging, specifically magnetic resonance imaging (MRI) in evaluating such casesbefore surgery. The clinical presentation of ORTA is in two ways, either with primary amenorrhea and pain or with menstrual periodsand progressive dysmenorrhea. In ORTA, it is important to identify the site of obstruction, as surgical management depends upon thesite of obstruction. Hence, the role of imaging is important in such cases. When suspecting MDAs especially ORTA, an initialscreening ultrasound should be followed by MRI because of its multiplanar capability, excellent soft tissue characterization, andabsence of ionizing radiation. All MRI examinations in our study were performed using 3 T MRI system using a phased array bodycoil. Here we are reporting three rare cases of ORTA presented to our institute whereMRI identified the exact site of obstruction beforesurgery, leading to better preoperative planning. Hence MRI should be mandatory part of workup of this group of patients.

Keywords Mullerian duct anomalies . Obstructive reproductive tract anomalies . Ultrasound .Magnetic resonance imaging

Introduction

Mullerian duct anomalies (MDAs) result from abnormalitiesoccurring during the embryologic development of mullerianducts. These abnormalities may be due to defective vertical orlateral fusion, non-development, or resorption failure [1]. The

prevalence of congenital uterine anomalies is between 0.3and10% in the general population [2]. During the course ofembryologic development, uterus, cervix, fallopian tubes, andupper two-thirds of the vagina are formed by mullerian ducts,whereas the urogenital sinus forms the lower vagina. Amongthe various mullerian abnormalities, obstructive reproductivetract anomalies (ORTA) form an interesting and difficultgroup to diagnose. Majority of these ORTA are diagnosed atpuberty, although they can occasionally be seen in the new-born period [3]. The clinical presentation of ORTA is in twoways, either with primary amenorrhea and pain or with men-strual periods and progressive dysmenorrhea [4]. In ORTA, itis important to identify the site of obstruction, as surgicalmanagement depends upon the site of obstruction. Here weare reporting three rare cases of ORTA presented to our insti-tute with the aim to emphasize the role of imaging specificallymagnetic resonance imaging (MRI) in diagnosis of such casesbefore surgery.

Case Series

Our first case is a 15-year-old girl who presented with primaryamenorrhea, abdominal pain, and tender abdomino-pelvic

This article is part of the Topical Collection on Imaging

* Pranav Kumar [email protected]

Nimisha [email protected]

Subhash [email protected]

Prem [email protected]

1 Department of Radiodiagnosis, Nalanda Medical College andHospital, Patna, Bihar, India

2 Department of Obstetrics and Gynaecology, All India Institute ofMedical Sciences, Patna, Bihar, India

3 Department of Radiodiagnosis, All India Institute of MedicalSciences, Patna, Bihar, India

https://doi.org/10.1007/s42399-020-00329-6

/ Published online: 29 May 2020

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mass at our institute. The girl was referred to the department ofRadiodiagnosis for MRI to look for structural abnormalities.

MRI revealed two widely separate blood-filled endometrialcavities with thinned out myometrium, no definite cervicalsegment, or vagina was visualized (Figs. 1 and 2). A largeblood-filled lobulated cystic structure was seen in the pelvisseparate from bilateral ovaries. Hence, a diagnosis of uterinedidelphys with hematometra, bilateral cervical agenesis, andconcurrent vaginal agenesis with hematosalpinx was made.The patient was taken for laparotomy along with hematometradrainage followed by creation of neocervix and its anastomo-sis with neovagina (vaginoplasty).

Our second case is a 16-year-old girl who presented withregular menstruation, dysmenorrhea, cyclical urinary com-plaints, and a tender abdomino-pelvic mass. Ultrasound(USG) done outside was reported as ovarian tumor. USG,computed tomography (CT), andMRI done in our departmentrevealed absent right kidney with two separate uterine horns,cervices, and vaginal cavities suggestive of uterine didelphys(Figs. 3 and 4). The right hemivagina, endocervical canal, andendometrial cavity were markedly distended with blood likelydue to obstructive right vaginal hemiseptum. A large blood-filled lobulated cystic structure was seen in the right adnexasuggestive of right hematosalpinx.

Hence, combining all the imaging finding diagnosis ofOHVIRA (obstructed hemivagina and ipsilateral renal anom-aly) was made. Vaginohysteroscopic guided hemivaginal sep-tal resection with hematometrocolpos drainage per vagina wasdone for the patient.

The third case is a 13-year-old girl who presentedwith regularmenstruation, cyclical lower abdominal pain since 1 year, and alarge abdominal lump. She was referred to our department forUSG. On USG, grossly distended blood-filled left uterus andvagina was seen suggestive of hematometrocolpos with a sepa-rate compressed right uterine horn (Fig. 5), bilateral kidneyswerenormal. MRI done revealed two separate uterine horns, cervices,and vaginal cavities, left hematometrocolpos due to obstructive

left vaginal hemiseptum (Fig. 6), and left hematosalpinx. Hence,a diagnosis of uterine didelphys with obstructed left hemivaginaleading to hematometrocolpos with left hematosalpinx wasmade. She was taken up for surgery (hysteroscopic hemivaginalseptal resection). Follow-up MRI done 1 week after surgeryrevealed complete resolution of left hematometrocolpos with re-sidual postoperative air in left endometrial cavity.

Discussion

During the early stage of embryonic development, the maleand female genital systems are indistinguishable. There aretwo sets of paired ducts present by 6 weeks: the mesonephric(wolffian) and paramesonephric (mullerian) ducts. Themullerian ducts (MDs) begin to develop along the lateral as-pect of the primitive kidneys, whereas wolffian ducts regressin the absence of mullerian inhibiting substance (MIF) fromthe male primitive gonads. The development of MDs occursin a bidirectional manner, extending caudally to reach primi-tive pelvic region where they meet the urogenital sinus at themullerian tubercle by 8–12 weeks of embryologic develop-ment. The uterus, cervix, and upper two-thirds of the vaginaare formed by the inferior aspect of theMDs, whereas superioraspect develops into the fallopian tube. By 12–16 weeks, sep-tum separating the inferior mullerian ducts begins to regress,resulting in fusion of the ducts to form a primitive uterus.There occurs spectrum of MDAs due to failure in septal regres-sion. During the course of development, distal MDs reach theurogenital sinus inducing it to form the vagina. Failure of theMDs to reach the urogenital sinus results in vaginal agenesis [5].

MDAs results from abnormalities occurring during theembryologic development of mullerian ducts. The AmericanSociety for Reproductive Medicine (ASRM) has classifiedMDAs into six categories on the basis of failure of normaldevelopment and a seventh category related to diethylstilbes-trol exposure. The ASRM classification is modified and

Fig. 1 a–b:Ultrasound images of the uterus reveal two completely separate uterine horn filled (thin arrow) with blood causing its distentionwith severelythinned out myometrium (thick arrow).The above features are suggestive of hematometra

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summarized in Table 1 [6]. ASRM classification has manydrawbacks as it does not include hymen, and many abnormal-ities do not fall discretely into one category in ASRMclassification.

The European Society of Human Reproduction andEmbryology (ESHRE) and the European Society forGynecological Endoscopy (ESGE) developed a new updatedclassification system in 2013 under the name of a commonworking group called CONUTA (Congenital UterineAnomalies). This classification is mainly clinically orientedand anatomy based. In this classification, uterine, cervical,and vaginal abnormalities are classified separately. The uter-ine anomalies are classified as U0 (normal uterus), U1 (dys-morphic uterus), U2 (septate uterus), U3 (bicorporeal uterus),U4 (hemi-uterus), U5 (aplastic uterus), and U6 (unclassifiedmalformations) on the basis of deviations of uterine anomalyarising from same embryologic origins [7]. The main classeshave been further divided into subclasses on the basis of var-iations in the anatomical presentation of the main classes. Thecervical and vaginal anomalies are classified into independentsupplementary subclasses. The ESHRE/ESGE system incor-porates currently all the knownMDAs overcoming limitationsof the previous classifications [5].

USG is commonly employed as the first imaging modalityfor the initial workup of MDAs. The recent advances in USG

with 3D techniques have allowed for increasingly accurateevaluation of MDAs. 3D USG like MRI reveals informationon the morphology of the uterine contour and its relationshipwith the external uterine contour due to its capacity to dem-onstrate coronal plane [8]. The scan technique should betransabdominal; however, transvaginal USG can be providedin cases limited by the patient’s body habitus, bowel gas, andvariation in uterine lie. The transvaginal scan provides betterspatial resolution with improved creation of 3D images from auterine volume acquisition; however, it is limited by field ofview. There is high degree of concordance between 3D USGand MRI with added advantage of this technique like lowercost and shorter examination time [5].

In this study, all MRI examinations were performed using3 T MRI system (Discovery 750w GE Machine) using aphased array body coil. T2-weighted imaging is the mainstayof pelvic imaging, especially for uterine abnormalities. Thesequences taken in the study were axial, sagittal T2-weighted images, oblique coronal T2-weighted images orient-ed to the uterine axis, 3D T2 CUBE (not an acronym) se-quence, and axial T1-weighted image.

ORTA not included in the ASRM classification systemshould be diagnosed preoperatively by MRI because obstruc-tion can occur at different levels of genital tract, and surgery isthe mainstay of such cases depending on site of obstruction.

Fig. 3 Ultrasound images of the uterus (a and b) shows two completely separate uterine horns (thick and thin arrows) filled with blood in right uterinehorn (thin arrow) suggestive of hematometra. Reformatted coronal CECT image (c) of the same patient shows absent right kidney (thick arrow)

Fig. 2 Uterine didelphys with hematometra, bilateral cervical agenesis,and concurrent vaginal agenesis. Axial T2-weighted MR images (a andb) shows bilateral uterine horns with hematometra (thick and thin arrows)

without cervices and vagina (thin arrow). Coronal STIR-weighted MRimages (c) shows left hematosalpinx (thin arrow) with normal bilateralovaries

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Hence, MRI due to its excellent soft tissue characterization,multiplanar capability, and absence of ionizing radiation is theimaging modality of choice for ORTA because it can correctlyidentify the exact site of obstruction thus helping in betterpreoperative planning [9].

Imperforate hymen, transverse vaginal septum, andvaginal and cervical agenesis in isolation or in combi-nation are the important causes of primary amenorrheawith pain in cases of ORTA.

Among the ORTA, hymenal abnormalities are the mostcommon, with imperforate hymen occurring in 1/2000 girls[10]. Normally the diagnosis can be made clinically; MRI canhelp in doubtful cases of imperforate hymen by identificationof the lowest level of bulge, thus differentiating it from distalvaginal atresia.

The transverse vaginal septumwhich may be located at anylevel of the vagina, but more common in upper and middlethird is a much rarer type of obstructive condition occurring in1/2100–1/72,000 [11, 12]. The septum in such cases can bethick or thin, but are generally <1 cm long [13]. MRI which isthe imaging modality of choice in such cases can demonstratethe level of obstruction, by identification of septum [3].

Vaginal agenesis can be partial or complete, and with thehelp of MRI in sagittal plane, length and the level of atreticsegment can bemeasured whichmight improve the chances ofsuccessful surgical repair. The clinical manifestations in casesof transverse vaginal septum and distal vaginal atresia aresimilar and they are not associated with other urogenitalanomalies [14].

Cervical agenesis or dysgenesis should be suspected, whenthe uterus is normally developed, but the cervix is not presentor not open to menstrual flow [4]. The cervical anomalies areclassified into agenesis, fragmentation, fibrous cord, and ob-struction [15].

MRI can not only give the detailed information regardingthe anatomy of cervix but also demonstrate the indirect signsof obstruction. Nearly half of the patients with cervical agen-esis will have concurrent vaginal agenesis, and one-third willhave a uterine anomaly [16]. In contrast to a vaginal septumand imperforate hymen in which vaginal surgery preservingfertility is the treatment of choice, the standard treatment forcervical agenesis is hysterectomy of the non-communicatinguterine horn [16]. However, surgical reconstruction can beattempted in some cases, as done in our case.

Fig. 5 Ultrasound images of the uterus (a and b) reveal two completely separate uterine horn, with blood in the left endometrial cavity and vaginacausing its distention suggestive of hematometrocolpos (thick arrow) with compressed right uterine horn (thick arrow)

Fig. 4 OHVIRA on MRI. Axial T2-weighted MR images (a, b) showsbilateral uterine horns (thick and thin arrows) with blood in right endo-metrial cavity and vagina (thin arrow) suggestive of hematometrocolpus.

Coronal STIR-weighted MR images (c) shows right hematosalpinx (thinarrow) with normal bilateral ovaries

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Herlyn–Werner–Wunderlich syndrome (HWWS) orOHVIRA is a rare type of ORTA. Patients of OHVIRA havemenses and progressive dysmenorrhea because the duplicatedsystem is only half obstructed [3]. In OHVIRA, uterinedidelphys with obstructed hemivagina is due to lateral non-fusion of the mullerian ducts with asymmetric obstruction,and it is almost always associated with renal agenesis ipsilat-eral to the side of obstruction [17]. OHVIRA is a group ofcomplex urogenital anomalies, which requires careful andcomplete preoperative evaluation in order to guide surgicaltreatment. Imaging especially MRI can provide informationregarding the uterus, cervix, and vagina morphology. In casesof HWWS, laparoscopic vaginal septum excision is the treat-ment of choice [18].

Conclusion

ORTA are usually diagnosed at puberty depending on theclinical presentation, whether the pain occurs in the setting

of amenorrhea or associated with menses. When suspectingMDAs especially ORTA, an initial screening ultrasoundshould be followed by MRI because of excellent soft tissuecharacterization and absence of ionizing radiation in pediatricpatients. The surgical corrective treatment is mainly based onthe preoperative assessment of obstruction sites and associateduterine anomalies. Hence, imaging specifically MRI plays animportant role in management of such cases.

Authors’ Contributions PKS and NA designed the study. PKS, NA, andSK acquired the data. PKS, NA, SK, and PK analyzed and interpreted thedata. PKS drafted the article and NA revised it critically for importantintellectual content. All authors read and approved the final version ofmanuscript and agreed to be accountable for all aspects of the work.

Funding Information The present study did not receive any financialsupport.

Compliance with Ethical Standards

Conflict of Interest The authors declare that they have no conflict ofinterest.

Informed Consent Informed consent was obtained from all individualparticipants/parents included in the study.

Ethical Approval Not Applicable.

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Fig. 6 Uterine didelphys with obstructed left hemivagina leading tohematometrocolpos with left hematosalpinx. Coronal T2-weighted fat-saturation image (a) shows left hematometrocolpus (thin arrow) with

compressed right uterine horn (thick arrow). Axial T2-weighted MR im-age (b) shows left hematosalpinx (thick arrow). Sagittal T2 weighted fatsaturation image (c) shows vaginal septum (thick arrow)

Table 1 ASRM classification system of MDAs

Classification Description

I Uterine/cervical/vaginal agenesis or hypoplasiato varying degree

II Unicornuate uterus with or without communicatinghorn to uterine cavity

III Uterine didelphys

IV Bicornuate (complete or partial) uterus

V Septate (complete or partial)uterus

VI Arcuate uterus

VII DES-related uterine anomalies

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