Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

A Common Path: Magnetic Resonance Imaging of Müllerian and Wolffian Duct Anomalies.

PURPOSE OF REVIEW: This review summarizes the pathway of Mullerian and Wolffian duct development, anomalies that result from disruptions to this pathway, and the characteristics on advanced imaging that identify them. RECENT FINDINGS: In-office evaluation for reproductive anomalies is usually inadequate for the diagnosis of congenital reproductive anomalies. Magnetic resonance imaging (MRI) has usurped invasive diagnostic methods including laparoscopy, hysteroscopy, and vasography as the new gold standard. Because of its superior soft-tissue delineation and the availability of advanced functional sequences, MRI offers a sophisticated method of distinguishing reproductive anomalies from one another, characterizing the degree of defect severity, and evaluating for concomitant urogenital anomalies non-invasively and without radiation exposure to the patient. Congenital anomalies of the Mullerian and Wolffian duct can be incredibly nuanced, requiring prompt and accurate diagnosis for management of infertility. Definitive diagnosis should be made early with MRI.

MR Imaging of Müllerian Anomalies.

Constituting a broad spectrum of developmental abnormalities of the female genital tract, Müllerian duct anomalies (MDAs) are present in up to 7% of the general population and in up to 25% of women who present with infertility and a history of miscarriage. Imaging plays an important role in narrowing the diagnostic considerations in these patients. In this article, we review the normal embryologic development of the female genital tract followed by the MR imaging techniques and protocol recommendations to evaluate such patients. The differential diagnoses and the MR imaging features of MDAs are also reviewed.

MRI presentations of Müllerian duct anomalies in association with unilateral renal agenesis.

AIM: To evaluate the presentations of Müllerian duct anomalies (MDAs) associated with unilateral renal agenesis (URA) on magnetic resonance imaging (MRI). MATERIALS AND METHODS: From 2014 to 2021, 92 patients with MDAs coexisting with URA who had undergone MRI were reviewed, and imaging patterns were analysed. RESULTS: Based on the different imaging patterns, there were 74 cases of Herlyn-Werner-Wunderlich (HWW) syndrome (80.4%), nine cases of unicornuate uterus (10.9%), and nine cases of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (8.7%). In HWW syndrome, URA was ipsilateral to the vaginal or cervical obstruction. All the nine cases of unicornuate uterus were obstructive, and the most common subtype was unicornuate uterus with a non-communicating functioning rudimentary horn. The other two cases of unicornuate uterus with no rudimentary horn were obstructed due to cervical os obliteration, one of which was complicated with contralateral absent ovary. URA was contralateral to the unicornuate uterus in all cases. In MRKH syndrome, seven patients had bilateral rudiments and ovaries, all of which were unilaterally or bilaterally located above the pelvic brim, and URA was ipsilateral to the ectopic ovary in all cases. The other two patients had unilateral absent rudiment, ovary, and ipsilateral URA. CONCLUSIONS: MRI presentations of URA-associated MDAs are diverse, with HWW syndrome being the most common form, followed by different patterns of unicornuate uterus and MRKH syndrome. An ectopic or absent ovary might be associated with URA in MRKH syndrome and unicornuate uterus.

Laparoscopic removal of bilateral uterine remnants for symptomatic unilateral leiomyomas in a patient with Müllerian agenesis.

OBJECTIVE: To our knowledge, we present the first video demonstration of the laparoscopic removal of bilateral uterine remnants for symptomatic unilateral leiomyomas in a patient with Müllerian agenesis. DESIGN: A video case report. SETTING: An academic medical center. PATIENT: A 44-year-old woman, gravida 0, with a history of Müllerian agenesis with presumed single uterine remnant who presented with worsening lower abdominal fullness and discomfort in the setting of known leiomyomas. Magnetic resonance imaging of the pelvis revealed a single rudimentary uterine remnant with 3 dominant leiomyomas, with the largest measuring 5.8 × 5.3 × 5.2 cm. After extensive counseling, she opted for definitive surgical management. She provided written consent for video recording and publication of this surgical case. INTERVENTION(S): Laparoscopic removal of bilateral uterine remnants, bilateral salpingectomy, and cystoscopy. MAIN OUTCOME MEASURE(S): Laparoscopic removal of bilateral uterine remnants with multiple unilateral leiomyomas, leading to resolution of lower abdominal bulk symptoms. RESULT(S): Diagnostic laparoscopy revealed a right 12-cm pelvic mass consisting of a uterine remnant with 3 dominant leiomyomas, left 2-cm rudimentary uterine remnant, bilateral atrophic fallopian tubes, bilateral normal ovaries, and absent cervix and upper vagina. Procedure was uncomplicated with an estimated blood loss of 25 mL. Patient was discharged on the same day of surgery after meeting required milestones. Pathologic examination of the specimens was consistent with intraoperative findings. CONCLUSION(S): Müllerian agenesis is a rare congenital anomaly of the female reproductive tract in which uterine remnants may be found. Leiomyoma formation in uterine remnants is rare but possible. Magnetic resonance imaging is the most sensitive imaging modality for uterine remnants but not always accurate. When leiomyomas become symptomatic, surgery is the only definitive management option with laparoscopy as the standard of care when possible. Minor changes to the minimally invasive approach may be necessary to accommodate for anatomical differences.

Útero bicorporeo - doble cérvix con embarazo gemelar en una sola cavidad uterina: reporte de caso / Bicorporeo uterus - double cervix with twin pregnancy in a single uterine cavity: case report

El embarazo gemelar en una de las cavidades uterinas del útero bicorpóreo es una rara presentación clínica. La viabilidad de este tipo de embarazo es de baja probabilidad, dado que esta malformación puede condicionar parto prematuro, placentación anormal, restricción del crecimiento fetal o progresión anormal del trabajo de parto. Se presenta un caso de un útero bicorpóreo con doble cérvix y una gestación gemelar en unas de las cavidades uterinas, con muerte fetal de uno de los fetos y parto pretérmino de 28 semanas del otro gemelo. Dada la rareza de la presentación se describen el caso y los hallazgos imagenológicos representativos.

Twin pregnancy in one of the uterine cavities of the bicoporous uterus is a rare clinical presentation. The viability of this type of pregnancy is unlikely since this malformation can lead to premature delivery, abnormal placentation, fetal growth restriction or abnormal progression of labor. We present a case of bicoporous uterus with double cervix with twin pregnancy in one of the uterine cavities, with stillbirth of one of the fetuses and preterm delivery of the other twin at 28 weeks. Given the rarity of the presentation, the case and representative imaging findings are described.

Adenomyosis in a uterine horn of a patient with Mayer-Rokitansky-Kuster-Hauser syndrome.

A 37-year-old woman with a previous diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome at 18 years of age was referred from a primary healthcare physician to a gynaecology appointment in our centre. She presented with a 2-year worsening pelvic pain and dyspareunia, symptoms that were previously absent and, at the time, with inadequate relief with oral analgesia. Physical examination showed absent uterine cervix and hypoplastic superior vagina. Transvaginal ultrasound and MRI suggested the presence of an hypoplasic uterus in left rotation. Laparoscopically, two asymmetric rudimentary horns were found, united by a fibrous central band, with an enlarged and congestive left horn. The three structures were removed as a whole. Histopathological examination reported the presence of multiple adenomyotic foci along the full thickness of the left rudimentary horn. The patient had an uneventful postoperative recovery and full remission of her symptoms.

The Use of Point-of-Care Ultrasound for the Diagnosis of Müllerian Abnormality in the Pediatric Emergency Department.

ABSTRACT: We present a case of an 18-year-old female patient with a history of primary amenorrhea presenting to a pediatric emergency department with complaint of new-onset vaginal bleeding. Upon the patient's presentation, she received a point-of-care ultrasound (POCUS), which promptly identified the lack of a uterus and led to the diagnosis of a müllerian duct anomaly. This is the first published report of müllerian agenesis identified in the pediatric emergency department using a transabdominal approach to pelvic POCUS. We recommend POCUS as a quick, noninvasive diagnostic approach for pediatric patients presenting with undifferentiated vaginal bleeding to guide further management.

A rare case of the new entity of müllerian anomalies mimicking the noncommunicating rudimentary cavity with hemi-uterus: accessory cavitated uterine mass.

OBJECTIVE: To demonstrate the laparoscopic excision of an accessory cavitated uterine mass (ACUM) and show that atypical anomalies can lead to the misdiagnosis of a noncommunicating rudimentary horn. DESIGN: Description and step-by-step demonstration of the surgical procedure using a video recording (Canadian Task Force Classification 3). SETTING: University hospital. PATIENT(S): A 17-year-old virgin girl with chronic pelvic pain and severe progressive dysmenorrhea despite using nonsteroidal anti-inflammatory drugs and oral contraceptives since her menarche. We could not perform transvaginal examination and ultrasonography because of the virginity of the girl. Transabdominal ultrasound revealed a 24 × 24-mm heterogeneous cystic mass on the left adnexal region suggesting a noncommunicating functional rudimentary horn. This mass was within the left lateral uterine myometrial wall, and otherwise, the uterus and endometrial cavity seemed normal on ultrasonographic examination. Magnetic resonance imaging showed a cavitated nodule of 25 mm with hemorrhagic components inside the mass on the left side of the uterus and the normal endometrial cavity with a normal size uterus. After detailed evaluation and counseling, a decision was taken to perform laparoscopy. INTERVENTION(S): Laparoscopic resection of the ACUM. MAIN OUTCOME MEASURE(S): On laparoscopic exploration, we first observed a globular enlargement on the left wall of the uterus under the round ligament. Both the ovaries and the uterus were normal, and there were two normally developed fallopian tubes with no abnormality communicating with the normal uterus. The mass had irregular muscle fibers and ambiguous limits for detaching from the normal myometrial tissue. Afterward, the mass was resected completely without entering the endometrial cavity. It was thought that these irregular borders may be a factor of confusion as a degenerated myoma on the diagnosis. The blunt and sharp dissection methods were used bidirectionally, and finally, the lesion was enucleated. The mass was incised, and chocolate-like brownish fluid spilled out from the cavity of the mass. The endometrium-like epithelium and surrounding muscular layer were seen on the mass. The myometrial defect was approximated and closed with a polyglactin absorbable suture. Histopathological examination revealed the endometrial lining cavitated mass surrounded by myometrium, and thus, it was consistent with the diagnosis of ACUM. RESULT(S): The postoperative period of the patient was uneventful. She was discharged without any complaint. Her severe pelvic pain and symptoms of dysmenorrhea were resolved 1 month after the surgery. We did not prescribe any medication for menstrual suppression and pain management before or after surgery. During the follow-up period, she had a regular menstrual cycle and no pelvic pain and dysmenorrhea for 2 years. CONCLUSION(S): Accessory cavitated uterine mass is a new entity having a normal endometrial cavity and is different from other müllerian duct anomalies. Severe dysmenorrhea and chronic pelvic pain are early-onset, and they are persistent despite using medications, but suspecting this problem is the main determinant for confirming the diagnosis. The final diagnosis of ACUM can be made after resecting the mass and confirming with histopathological examination. Accessory cavitated uterine mass may be confused with a similar lesion of juvenile cystic adenomyosis (JCA). They present very similar clinical and pathological findings, but JCA is a rare form of focal adenomyosis that contains cystic contents inside the lesion, and it has more intense adenomyosis surrounding the endometrial lining of a cavitated mass. In our case, histopathological examination revealed muscle fibers around the endometrial epithelium, with no adenomyotic foci. It was so difficult to distinguish these two similar lesions during the surgery. Thus, we could distinguish ACUM from JCA with this pathological confirmation. Accessory cavitated uterine mass may also be misdiagnosed as U4a of ESHRE/ESGE classification and 2b of ASRM classification, but it should be distinguished from these anomalies. Moreover, it is important to define ACUM clearly in the U4 or U6 class of the ESHRE/ESGE and 2b of ASRM classification systems.

Magnetic resonance imaging of Müllerian anomalies in girls: concepts and controversies.

Female Müllerian anomalies are the result of failure of formation, fusion or resorption of the Müllerian ducts and are relatively common, with a prevalence of 5.5-7.0% in the general population. While some of these anomalies are asymptomatic, those presenting with obstruction require accurate identification for optimal clinical management including potential surgical treatment. MRI is a useful adjunct to sonography in the evaluation of Müllerian anomalies, typically allowing a more complete characterization of the malformation. Technical aspects, embryologic concepts and controversies regarding classification systems are highlighted in this review. Several Müllerian anomalies are discussed and illustrated in more detail utilizing various cases with pelvic MRI studies.

The accuracy of three-dimensional ultrasonography in the diagnosis of Müllerian duct anomalies and its concordance with magnetic resonance imaging.

This retrospective study was performed to comparatively evaluate the diagnostic accuracies of three-dimensional ultrasonography (3D-US) and magnetic resonance imaging (MRI) for identification of Müllerian duct anomalies (MDAs). A total of 27 women with suspected MDAs underwent gynaecological examination, 2D-US, 3D-US and MRI, respectively. The MDAs were classified with respect to the European Society of Human Reproduction and Embryology-European Society for Gynaecological Endoscopy (ESHRE/ESGE) and American Society of Reproductive Medicine (ASRM) systems. Based on the ESHRE/ESGE classification, there was a discrepancy for only one patient between US and MRI. Thus, the concordance between US and MRI was 26/27 (96.3%). With respect to ASRM classification, there was a disagreement between MRI and 3D-US in three patients, thus the concordance between MRI and 3D-US was 24/27 (88.9%). To conclude, the 3D-US has a good level of agreement with MRI for recognition of MDAs.Impact StatementWhat is already known on this subject? Müllerian duct anomalies (MDAs) are relatively common malformations of the female genital tract and they may adversely affect the reproductive potential. The establishment of accurate and timely diagnosis of these malformations is critical to overcome clinical consequences of MDAs.What the results of this study add? The concordance between US and MRI for diagnosis of MDAs based on ESHRE-ESGE classification and ASRM were 96.3% and 88.9%, respectively. These results indicate that 3D US has a satisfactory level of diagnostic accuracy for MDAs and it can be used in conjunction with MRI. Minimisation of diagnostic errors is important to improve reproductive outcome and to avoid unnecessary surgical interventions.What the implications are of these findings for clinical practice and/or further research? Efforts must be spent to eliminate the discrepancies between the clinical and radiological diagnosis of MDAs. Further trials should be implemented for establishment and standardisation of radiological images for identification and classification of MDAs.

Agenesis of female internal reproductive organs, the Mayer- Rokitansky-Küster-Hauser syndrome.

OBJECTIVES: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most common cause of uterine and uterine tubes absence/underdevelopment and the second most common cause of primary amenorrhea. It is characterized by a congenital agenesis of the uterine tubes, uterus, cervix, and upper part of the vagina. This study presents our 10 years of experience with the diagnostics and therapeutic management of patients with MRKH syndrome. We also focused on the description of anatomical deviations of the female reproductive organs. MATERIALS AND METHODS: We studied a cohort of 16 patients hospitalized with MRKH syndrome between 2011-2020. We analysed the age at diagnosis, clinical signs and symptoms, diagnostic techniques, methods of neovagina creation, and anatomical anomalies of the female reproductive organs. RESULTS: The mean age of our patients at the time of diagnosis was 16.75 years. The most frequent clinical manifestations were primary amenorrhea (56.25 %), pelvic pain (31.25 %) and coitus-associated problems. We used two methods of neovagina creation. In six patients we used the non-surgical Frank's dilators method. The vaginal length at the beginning of the dilation was 1.5-2 cm. In 4 patients the vaginal length was under 1 cm, so we performed surgical neovagina creation using the laparoscopic Vecchietti method. An-other two patients could create the vagina via regular sexual intercourse. Based on magnetic resonance imaging and ultrasound examination, the following anomalies were observed: complete agenesis of the uterus (50 % of cases), fibrous band (25 %) and rudimentary uterus (25 %). CONCLUSIONS: Satisfactory results in the attempt to create a neovagina can be obtained by both non-surgical and surgical methods. Modern medicine provides many therapeutic measures, which make it possible for the affected women to have a normal sexual life (Tab. 1, Fig. 3, Ref. 37).

Giant hysteromyoma after vaginoplasty in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: case report and review of the literature.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by congenital absence of both the uterus and vagina. Some patients require surgery to create a neovagina, however, the preservation of a nonfunctional rudimentary uterus after surgery may lead to long-term complications. Herein, a rare case of a giant hysteromyoma after vaginoplasty, in a 31-year-old Chinese female patient who was diagnosed with MRKH syndrome, is reported. The patient, who had undergone vaginal reconstruction 4 years previously, presented with abdominal distension for the previous 2 weeks. Transabdominal ultrasonography showed a firm mass of approximately 10 × 10 cm in the lower abdomen. The patient subsequently underwent an exploratory laparotomy, and a leiomyoma from her rudimentary uterus was removed. Beside this case, seven cases, published between 2004 and 2020, were identified during a literature search. Findings of the present and previously published cases suggest that gynaecologists should pay particular attention to the risks of pelvic complications in female patients with MRKH syndrome who have previously undergone surgery, and select appropriate therapeutic methods.

ASRM müllerian anomalies classification 2021.

There are many proposed classification systems for müllerian anomalies. The American Fertility Society (AFS) Classification from 1988 has been the most recognized and utilized. The advantages of this iconic classification include its simplicity, recognizability, and correlation with clinical pregnancy outcomes. However, the AFS classification has been criticized for its focus primarily on uterine anomalies, with exclusion of those of the vagina and cervix, its lack of clear diagnostic criteria, and its inability to classify complex aberrations. Despite this classification and others, the wide range of müllerian anomalies is still largely unknown and confusing to many providers. Consequently, müllerian anomalies may go undiagnosed for extended periods, receive inappropriate or inadequate surgical interventions, and result in persistent issues such as pain or loss of reproductive function. The American Society for Reproductive Medicine Task Force on Müllerian Anomalies Classification was formed and charged with designing a new classification. The Task Force set goals for a new classification and chose to base it on the iconic AFS classification from 1988 because of its simplicity and recognizability, while expanding and updating it to include all categories of anomalies. In addition, this was recognized as an opportunity to raise awareness of this area of medicine, educate providers and learners, and promote patient advocacy. Presented here is the new American Society for Reproductive Medicine Müllerian Anomalies Classification 2021.

Müllerian Duct Anomalies: Role in Fertility and Pregnancy.

Müllerian duct anomalies (MDAs) have important implications for the reproductive health of female patients. In patients with both infertility and recurrent pregnancy loss, the incidence of MDAs is as high as 25%. Congenital uterine anomalies are often only part of a complex set of congenital anomalies involving the cervix, vagina, and urinary tract. Multiple classification systems for MDAs exist, each with different criteria that vary most for the diagnosis of septate uterus. Recognizing the features that guide clinical management is essential for interpretation. Identification of an MDA should prompt evaluation for associated urinary tract anomalies. In patients with infertility who seek to use assisted reproductive technologies such as intrauterine insemination, recognition of MDAs may have an affect on reproductive success, particularly in patients who have an incomplete and clinically occult septum that divides the cervix. Two-dimensional US is the first-line modality for evaluating the uterus and adnexa. Three-dimensional (3D) US or MRI may help to visualize the external uterine fundal contour and internal indentation of the endometrial cavity, which are two morphologic characteristics that are keys to the diagnosis of congenital uterine anomalies. Hysterosalpingo contrast-enhanced US may be performed in conjunction with 3D US to evaluate uterine morphologic characteristics, the endometrial cavity, and tubal patency in a single examination. MRI helps to characterize rudimentary uteri in patients with müllerian hypoplasia and allows assessment for ectopic ureters, abnormally positioned ovaries, or associated deep infiltrative endometriosis. Online supplemental material is available for this article. ©RSNA, 2021.