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.

Long-Term Follow-Up after Laparoscopic Uterovestibular Anastomosis in Patients with Cervical Atresia and Complete Absence of the Vagina.

BACKGROUND: The surgical treatment of girls with cervical atresia and complete absence of the vagina remains a problem because of the rarity of cases and the controversial study results. OBJECTIVE: To describe the surgical technique and long-term results of laparoscopically assisted uterovestibular anastomosis in patients with cervical atresia and complete absence of the vagina STUDY DESIGN: Sixteen consecutive patients with cervical atresia and complete absence of the vagina were conservatively treated with laparoscopically assisted uterovestibular anastomosis in 2 tertiary care referral centers. The follow-up assessments included clinical examination, determination of the presence and quality of sexual intercourse, and vaginoscopy. RESULTS: All patients underwent laparoscopically assisted uterovestibular anastomosis. No perioperative complications occurred. The mean follow-up period was 8 ± 3.2 years. In all patients, the length of the neovagina was greater than 4 cm at 1 year after the surgery and approximately 6 cm after 2 years. After the start of sexual intercourse, the neovagina exceeded 7 cm in length in 2 of the 11 sexually active patients. At 12 months after the surgery, iodine-positive epithelium was present in all patients and was maintained over time. The continuity of the neovagina, neocervix, and uterine body was maintained without further interventions in 15 of the 16 patients. During the follow-up, 11 patients were sexually active, 5 were married, 4 were seeking conception, and 2 had spontaneous pregnancy. CONCLUSIONS: Laparoscopically assisted uterovestibular anastomosis seems to be a safe and effective treatment for patients with cervical atresia and complete absence of the vagina, at least in terms of the recovery of menstrual function and sexual activity.

Congenital vaginal atresia: about an uncommon case.

Congenital vaginal atresia is a rare congenital abnormality of the female reproductive tract due to a failure of canalisation in the urogenital sinus. We report the uncommon case of a 14-year-old girl with a primary amenorrhea associated to a cyclical pelvic pain, in whom examination objectified a vaginal cup that replaced the introitus. Ultrasound examination and magnetic resonance imaging (MRI) revealed atresia of the lower third of the vagina. The diagnosis of partial vaginal aplasia on functional uterus was retained, the patient had a perineal vaginoplasty. The evolution was satisfactory with regular cycles and improvement of pelvic pain. The decline is three years. Congenital vaginal atresia is a rare malformation classically and clinically pictured as a primary amenorrhea with chronic cyclic pelvic pain. Diagnosis is based on clinical examination and imaging. The MRI is designed to assess the importance of atresia and guide surgical management while the surgical technique aims to restore the integrity of the utero-vaginal tract and to increase the possibility of pregnancy for these patients.

Symptomatic Imperforate Hymen in Early Infancy: A Case Report.

Imperforate hymen, though a congenital anomaly, usually presents late in puberty as lower abdominal pain, primary amenorrhea, and cyclical pain. Blood collects in vagina and uterus, proximal to imperforate hymen leading to their distention. Its presentation at infancy is a rare entity. We report such a rare case of symptomatic imperforate hymen in infancy, who presented with acute retention of urine, chills and rigor. Abdominal examination revealed an intra-abdominal mass in the lower abdomen and pelvis with the absence of vaginal opening on perineal examination. Contrast enhanced computed tomography abdomen showed large abdominopelvic cystic lesion posterior to the urinary bladder and anterior to the rectum consistent with a highly distended vagina. She was managed by the incision of the imperforate hymen and drainage of the pus. A high index of suspicion is necessary whenever a female infant presents with abdomino-pelvic mass with symptoms of fever or urinary retention.

Resection of Longitudinal Vaginal Septum Using a Surgical Stapler.

BACKGROUND: A longitudinal vaginal septum is a rare congenital anomaly that can cause dyspareunia, difficulty with tampon insertion, persistent vaginal bleeding, and dysmenorrhea. Various surgical techniques have been described. CASE: We present the case of a 14-year-old girl with obesity and diabetes mellitus with uterine didelphys and double vagina with a longitudinal vaginal septum. The patient presented with dysmenorrhea. Resection of the longitudinal vaginal septum using a GIA and EndoGIA (Medtronic, Inc, Doral Fl) stapler device was performed. SUMMARY AND CONCLUSION: We introduce a safe and effective technique for resecting a longitudinal vaginal septum using stapler technology. This technique eliminates the potential risk of thermal injury to nearby structures from currently described methods.

Management of Acute Obstructive Uterovaginal Anomalies: ACOG Committee Opinion, Number 779.

Obstructive uterovaginal anomalies may present after puberty with amenorrhea, dysmenorrhea, pelvic pain, recurrent vaginal discharge, or infertility. The evaluation of a patient with a suspected obstructive reproductive anomaly should include a detailed medical history, physical examination, and imaging. The genital examination is critical to differentiate a patient with an imperforate hymen from a patient with labial adhesions, urogenital sinus, transverse vaginal septum, or distal vaginal atresia. Pelvic ultrasonography is the initial imaging method recommended for a patient with cyclic pain and amenorrhea or a patient with persistent dysmenorrhea. It is important to note that diagnosis of a uterine or vaginal anomaly by imaging before puberty can be challenging and misleading because of the small size of the prepubertal uterus and the lack of endometrial stimulation and menstrual distention of the vagina. Consultation with a radiologist experienced with imaging of uterovaginal anomalies may be helpful to determine the most accurate diagnosis. In general, obstructive vaginal and uterine anomalies are not surgical emergencies, and the complexities of these conditions are best managed by gynecologic care providers familiar with the surgical management of these conditions. Given the high risk of stenosis and complications associated with transverse vaginal septum, distal vaginal atresia, and cervical atresia, referral to a center with expertise in the management of these anomalies is paramount. The best long-term outcome is achieved with a complete evaluation, clear understanding of the anomaly, mobilization of appropriate surgical resources, sufficient preoperative counseling, and planned surgical intervention.

MRI features and differential diagnoses of congenital vaginal atresia.

Objective: To investigate the MRI manifestations of congenital vaginal atresia, analyze its imaging features, and improve the understanding of the disease. Methods: MRI findings and clinical data of 12 patients with congenital vaginal atresia confirmed by hysteroscopy and laparoscopic surgery were retrospectively analyzed. Vaginal atresia was classified according to vaginal dysplasia in AFS female genital malformation classification system. Results: In this study, 12 cases of congenital vaginal atresia were diagnosed by combined preoperative MRI with operative diagnosis. Among them, 10 patients all had type-I congenital vaginal atresia, and their uterus and cervix were normal (1 patient had ectopic renal malformation combined with left ovarian endometriosis cyst and 1 patient with uterine empyema). The other two cases were diagnosed congenital vaginal atresia type II (1 case merged with residual uterus, 1 case with cervical dysplasia). MRI mainly manifested as dilatation and hemorrhage in the uterine cavity, cervical canal and vaginal upper segment. T1WI showed high signal, T2WI showed slightly lower and slightly higher signal. The dilated vagina was above the perineal level. Conclusion: MRI features of congenital vaginal atresia have certain characteristics. MRI cannot only accurately assess the type of vaginal dysplasia and its associated complications, but also make objective evaluation and diagnosis, so it can be used as the best effective preoperative image evaluation.

Partial Cervical Agenesis and Complete Vaginal Atresia.

BACKGROUND: The objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center. CASES: Two patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized. SUMMARY AND CONCLUSION: Partial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.

Obstructed Hemivagina with Ipsilateral Renal Anomaly.

The association of obstructed hemivagina with ipisilateral renal anomaly (OHVIRA) is a well-described entity. While there has been an increased familiarity with this disorder, the exact incidence of OHVIRA is unknown. Our aim was to review the available literature on this topic, look at common presentations, and uncommon presentations. This condition is a well-described entity but requires careful evaluation, because unique presentations do occur. Diagnostic challenges include time of presentation and symptoms associated with presentation. Surgical challenges include microperforation of the hemivaginal septum, pelvic inflammatory disease, thick septum, or high septum. Each of these must be managed carefully. Although a solitary kidney is frequently thought to be associated with OHVIRA, dysplastic kidneys, pelvic kidneys, or ectopic ureters can occur. Prompt and accurate diagnosis is essential for relief of symptoms and prevention of complications. To minimize problems associated with delayed diagnosis, magnetic resonance imaging evaluation is recommended along with referral to a center with expertise in these conditions.

Lesions of the Neovagina--A Review.

Creation of a neovagina is uncommon, but it may be performed for congenital absence or anomaly, after exenterative cancer surgery, or in male-to-female transsexuals. A variety of tissues may be used to create the neovagina. Lesions of the neovagina are uncommon and probably not well known to most practitioners. A review of these lesions will be helpful if such a patient presents.

A Review of Lesions of the Posterior Fourchette, Posterior Vestibule (Fossa Navicularis), and Hymen.

Lesions specific to the posterior fourchette, posterior vestibule (fossa navicularis), and hymen are reviewed. Knowledge of these regional lesions will be helpful if such a patient is encountered.

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome should be redefined as ipsilateral renal anomalies: cases of symptomatic atrophic and dysplastic kidney with ectopic ureter to obstructed hemivagina.

OBJECTIVE: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome is a rare syndrome characterized by mullerian and renal anomalies. Renal agenesis is classically considered to be part of the definition of OHVIRA syndrome. There are increasing reports that the lack of an ipsilateral kidney on imaging studies is not from true renal agenesis but renal dysplasia and atrophy. We have observed cases where this ipsilateral dysplastic and atrophic kidney leads to clinical symptoms. The objective of this study is to report cases of OHVIRA syndrome where an ipsilateral dysplastic and atrophic kidney led to clinical symptoms, and to raise awareness in the pediatric urology community of this variant of OHVIRA syndrome. MATERIAL AND METHODS: All cases of OHVIRA syndrome with an ipsilateral dysplastic and atrophic kidney were identified from January 2010 to June 2013. The patient's presentation, clinical course, surgical management, radiologic findings, and pathologic finding were reviewed. RESULTS: There were three cases of OHVIRA syndrome with a symptomatic ipsilateral dysplastic and atrophic kidney identified. All three of these dysplastic and atrophic kidneys had an ectopic ureter to the obstructed hemivagina and led to persistent vaginal drainage after resection of the vaginal septum. These dysplastic and atrophic kidneys were not visualized on any imaging studies. Laparoscopic removal of the dysplastic and atrophic kidney led to cessation of vaginal drainage in all cases. CONCLUSION: This study reports additional cases to the literature that do not fit the classic definition of OHVIRA syndrome. In the cases in this study, there was no ipsilateral renal agenesis, but an ipsilateral dysplastic and atrophic kidney with an ectopic ureter to the obstructed hemivagina. In addition, these cases demonstrate that the dysplastic and atrophic kidney may cause symptoms such as persistent vaginal drainage after resection of vaginal septum. The dysplastic and atrophic kidneys may not be detected by any imaging modality including MRI and DMSA scan and may be ectopic in location. All three of our cases had persistent vaginal drainage after resection of the vaginal septum which was cured by removal of the dysplastic and atrophic kidney ipsilateral to the obstructed hemivagina. The limitations of this study include the small number of patients and retrospective nature. While the classic definition of OHVIRA syndrome includes ipsilateral renal agenesis, there is increasing evidence that the absence of a kidney on imaging is due to renal dysplasia and atrophy and not true renal agenesis. In addition, we have observed that this dysplastic and atrophic kidney may cause clinically significant issues such as persistent vaginal drainage through an ectopic ureter to the ipsilateral hemivagina after resection of vaginal septum. This small dysplastic and atrophic kidney may not be visualized on imaging studies and laparoscopy can be diagnostic and therapeutic if indicated. Ipsilateral renal anomalies, not ipsilateral renal agenesis, should be considered part of the definition of OHVIRA syndrome. Pediatric urologists need to be aware of the spectrum of renal anomalies in OHVIRA syndrome.

Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed.

Endoscopic-guided laser ablation of vestibulovaginal septal remnants in dogs: 36 cases (2007-2011).

OBJECTIVE: To describe the technique and evaluate short- and long-term outcomes in female dogs after endoscopic-guided laser ablation (ELA) of various vestibulovaginal septal remnants (VVSRs). DESIGN: Retrospective case series. ANIMALS: 36 dogs. PROCEDURES: Medical records of dogs with VVSRs that underwent ELA were retrospectively reviewed. All patients underwent complete cystourethrovaginoscopy for diagnosis and treatment. Endoscopic-guided laser ablation (with a holmium:yttrium-aluminum-garnet or diode laser) was used to transect the vaginal membrane. Patients with intramural ectopic ureters were concurrently treated with ELA of their ectopic ureters. Endoscopy was repeated 6 to 8 weeks after ELA of vaginal remnants in some patients, and the procedure sites were reassessed. RESULTS: 36 female dogs with persistent paramesonephric septal remnants (n = 19), vaginal septa (11), or dual vaginas (6) were included. Twenty-six dogs had urinary incontinence, 2 had recurrent UTIs, and 8 had both. Thirty of 36 (83%) dogs had concurrent ectopic ureters. Endoscopic-guided laser ablation was performed with holmium:yttrium-aluminum-garnet and diode lasers in 8 and 28 dogs, respectively. Five dogs had mild postoperative dysuria for < 24 hours. One patient developed a complication involving inadvertent laser perforation of the vaginal wall. There were no negative effects from this event, and the perforation was fully healed within 8 weeks. At the time of follow-up, all defects were fully healed with no sign of recurrence in the 18 (50%) patients reevaluated. There was a significant improvement in continence scores and a significantly decreased incidence of UTIs after ELA. The median follow-up time was 34 months (range, 8 to 57 months). CONCLUSIONS AND CLINICAL RELEVENCE: The results of the present study indicated that ELA provided an effective, safe, and minimally invasive treatment option for various VVSRs in dogs, avoiding the need for more invasive surgery.

Correlation or confusion: the need for accurate terminology when comparing magnetic resonance imaging and clinical assessment of congenital vaginal anomalies.

OBJECTIVE: To examine the terminology used when describing clinical and magnetic resonance imaging (MRI) findings in the investigation of complex congenital Mullerian anomalies. PATIENTS AND METHODS: Forty-four girls and women with complex congenital Mullerian anomalies underwent vaginal examination and pelvic MRI. The findings from both procedures were compared. Different terms used to refer to the vagina were noted. Where clinical and MRI results were discordant, findings and terminology were reviewed by the multidisciplinary team. RESULTS: Eleven different terms were used to describe vaginal anatomy. In 10 cases (23%) clinical and MRI findings appeared discordant. On review, it became clear that in all but two cases identical findings were being described using different vocabulary. CONCLUSION: At present, there is no standard descriptive terminology recommended for these anomalies and clinical confusion can arise. A uniform protocol for terminology should be agreed between specialists undertaking this work.

Management of hematocolpos in adolescents with transverse vaginal septum.

AIM: The aim of this study was to underline the significance of premenarcheal gynecological examination in patients with transverse vaginal septum that could possibly be complicated with endometriosis. DESIGN: Retrospective study including the period between January 2008 and December 2010. SETTING: Second Department of Obstetrics and Gynecology. PATIENTS: We searched our databases regarding cases of hematocolpos caused by transverse vaginal septum. MAIN OUTCOME: Among the patients presented with hematocolpos we identified 4 cases caused by transverse vaginal septum. RESULTS: We present the management of these cases regarding diagnosis, differential diagnosis, and treatment. The mean age of the patients was 13.1 years. All patients presented in our department with hypogastric abdominal pain and hematocolpos. No problems in adrenarche or thelarche were mentioned. The U/S and MRI revealed a normal cystic in the upper part of the vagina--hematocolpos varying from 42 × 26 × 30 to 73 × 55 × 32 mm. Three of the patients had an upper transverse vaginal septum while one had a middle transverse vaginal septum. Only one patient had a concomitant anomaly of the urinary system (ectopic kidney). In our patients, after laparoscopic examination 3 out of 4 patients had findings of endometriosis (2/3 with stage I-minimal endometriosis and 1/3 with stage II-mild endometriosis). CONCLUSION: Physicians should be aware of transverse vaginal septum in the differential diagnosis of hematocolpos with abdominal pain and primary amenorrhea in the early adolescent years. Early diagnosis could be based on premenarcheal gynecological examination and could lead to correct management in order to avoid the complications of endometriosis (dysmenorrhea or infertility).

Vaginal resection and anastomosis for treatment of vestibulovaginal stenosis in 4 dogs with recurrent urinary tract infections.

CASE DESCRIPTION-4 dogs were evaluated because of recurrent urinary tract infections. CLINICAL FINDINGS-All dogs had recurrent urinary tract infections and similar clinical signs; 3 dogs had urinary incontinence. Digital vaginal examination revealed vestibulovaginal stenosis in all dogs, which was confirmed by results of contrast vaginourethrography. From image measurements, the vestibulovaginal ratio (ratio of the height of the vestibulovaginal junction to the maximum height of the vagina on a lateral vaginourethrogram) was calculated for each dog. Three dogs had severe stenosis (vestibulovaginal ratio, < 0.20; severe stenosis is defined as a vestibulovaginal ratio < 0.20), whereas the fourth dog had moderate stenosis (vestibulovaginal ratio, 0.24; ratio range for moderate stenosis is 0.20 to 0.25). TREATMENT AND OUTCOME-All dogs were anesthetized for surgical correction of the vestibulovaginal stenosis. Vaginal resection and anastomosis of the stenosis was performed in all 4 dogs, with 1 dog also undergoing episioplasty. Complete resolution of clinical signs was apparent in 3 dogs; 1 dog had postoperative complications including pollakiuria and stranguria, which resulted in rectal and vaginal prolapse. This dog underwent ovariohysterectomy, after which clinical signs resolved. All dogs had resolution of urinary tract infections at the time of follow-up (6 to 8 months after surgery). CLINICAL RELEVANCE-Resection and anastomosis may resolve recurrent urinary tract infections in dogs with severe or moderate vestibulovaginal stenosis. Episiotomy was not necessary for success of surgical treatment, and overall, that procedure increased morbidity, the severity of intraoperative hemorrhage, and duration of surgery.