Search Results (27)

Background: Müllerian (paramesonephric) duct anomalies (MDA) are a rare condition, occurring in 5.5% of female newborns. One of the most complex malformations is represented by Obstructed Hemivagina and Ipsilateral Renal Anomalies (OHVIRA) syndrome, also known as Herlyn –Werner–Wunderlich (HWW) syndrome. Case presentation: We present the case of a 7-year-old asymptomatic premenarchal female patient diagnosed with OHVIRA syndrome with ipsilateral renal hypoplasia and ectopic ureteral implantation at the level of the uterus. As the patient developed urinary incontinence after the incision of the vaginal septum, right-sided 3D laparoscopic total nephrectomy was performed. Literature review: OHVIRA syndrome associated with ureteral ectopy is a rare occurrence, being encountered in 0.0064% of cases. The premenarchal diagnosis represents a challenge, due to the underdeveloped status of the genital tract. However, it should be ruled out in female newborns with unilateral renal agenesia or multicystic dysplastic kidney. Most reported cases describe the obstructed hemivagina as the site of ureteral ectopy. To our knowledge, this is the first reported case of OHVIRA syndrome with ectopic ureter draining at the level of the ipsilateral hemiuterus, diagnosed before the pubertal age. Conclusions: OHVIRA syndrome is one of the rarest Müllerian duct abnormalities. The management of these patients should be conducted in multidisciplinary teams, with long-term urological and gynecological follow-ups. Full article

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. Method: Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the AMHR2 gene to enable future genotype–phenotype correlations in this rare disorder. In addition, a search of PMDS associated with congenital anomalies reported in the literature was performed to provide a comprehensive overview of this pathology. Results: We present the case of a 13-year-old boy with a history of bilateral cryptorchidism. Two attempts of right orchidopexy were performed at the age of 4 and 5 years. At that time, exploratory laparoscopy identified an intra-abdominal left testicle. In addition, a fibrous structure extending from the left intra-abdominal testicle to the deep inguinal ring (Müllerian duct remnants) and a medially located abdominal mass, bilaterally fixated to the parietal peritoneum (uterine remnant), were detected. The left testicular biopsy revealed immature prepubertal testicular tissue. The uterine remnant was dissected and removed and the left orchidopexy was performed. The karyotype was 46, XY without other numerical or structural chromosomal abnormalities. Reinterventions on the left testicle were performed at the age of 9 and 12 years when a testicular remnant was identified in the left inguinal canal and removed. Three months after left orchidectomy, ultrasound followed by abdominopelvic MRI identified a structure resembling a testis in the left inguinal area. Another surgical exploration was performed, and a mass located outside (lateral) the inguinal canal was found. A biopsy from the suspected mass was performed. The histopathologic examination showed characteristics of immature prepubertal testis. The patient was later referred to our clinic with the suspicion of DSD. Serum AMH and inhibin B were normal. Therefore, the diagnosis of PMDS was suspected. Genetic testing was performed using next-generation sequencing in a gene panel that included AMH and AMHR2 genes. A homozygous variant classified as likely pathogenic in the AMHR2 gene was identified but remains unreported in the literature (NC_000012.11:g.53823315T>C in exon 8 of the AMHR2 gene). Conclusions: A high degree of suspicion and awareness is needed to diagnose this condition in order to avoid iterative surgery. The coexistence of two extremely rare conditions (PMDS and supernumerary testes) has been reported previously in only two patients, yet the association could have a common pathophysiologic background. Our case, reporting a novel AMHR2 variant, highlights the importance of genetic testing in these individuals in order to elucidate a possible genotype–phenotype correlation. Full article

Background: Women with an aplastic uterus (ESHRE/ESGE classification) or Müllerian agenesis (ASRM MAC 2021) might present with functional uterine remnants. Our study aimed to report the clinical course of symptomatic uterine rudiments in adolescents and adults with Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS). Methods: This study involved 20 patients with MRKHS who, between 2012 and 2023, underwent surgery for symptomatic uterine horns at the mean age of 25.2 years in the Division of Gynaecology, Gynaecological and Obstetric Clinical Hospital, Poznan University of Medical Sciences, Poland. The records of the patients were retrospectively analysed. Results: The volume of the uterine horns ranged from 0.8 to 58.3 cm³, and the volume of the endometrial cavity within the horns ranged from 0.03 to 12 cm³, with no significant difference between adolescents and adults (p = 0.36). In five patients (25%), MRKHS was identified during the diagnosis of recurrent pelvic pain at the age of 12.6–14.8 years. In 19 patients, uterine rudiments were removed: unilaterally in 3 patients (16%), bilaterally in 16 patients (84%), and laparoscopically in 89% of cases. In one patient, the horn was preserved (horno-neovaginal anastomosis). Histopathology confirmed the presence of the endometrium in uterine rudiments ipsilateral to the pain location in 75% of cases. Four patients (20%) were diagnosed with endometriosis. Conclusions: Recurrent pelvic pain in patients with MRKHS should prompt the diagnosis of functional uterine rudiments. The resection of symptomatic uterine horns can result in the complete resolution of pain. Patients with endometriosis are at risk of pain recurrence. In some patients strongly desirous of menstruation, horno-neovaginal anastomosis can be cautiously attempted. Full article

Background: Mullerian duct anomalies include a broad spectrum of genital tract defects that arise from developmental abnormalities of the genital tract. Herlyn–Werner–Wunderlich syndrome (HWWS) refers to the combination of uterus didelphys, blind hemivagina and ipsilateral renal agenesis. In the literature, the syndrome often appears as a few sporadic case reports. Case: We report a case of symptomatic Herlyn–Werner–Wunderlich syndrome diagnosed by transavaginal scan and MRI and successfully treated with a laparoscopic-assisted hysteroscopic vaginal septum resection. The postoperative course was without complications, and clinical symptoms completely resolved the surgery. Summary and Conclusions: Combination of laparoscopy and hysteroscopy was found to be an easy, safe, effective and appropriate approach for patients with HWWS. Full article

Herlyn–Werner–Wunderlich (HWW) syndrome is characterized by obstructed hemivagina and ipsilateral renal anomaly, a rare congenital anomaly of the genitourinary tract, resulting from malformations of the renal tract associated with Müllerian duct anomalies. The initial symptoms of HWW frequently present after menarche and may be nonspecific, leading to a delayed diagnosis. We presented a 19-year-old female with 3-year hematuria and abdominal pain. The final diagnosis of HWW syndrome with a rare vesicovaginal fistula was made. The treatment of HWW syndrome typically involves surgical intervention. The primary treatment is resection or removal of the obstructed vaginal septum. The patient underwent excision of vaginal septum and vaginal reconstruction via hysteroscopy, as well as repair of the vesicovaginal fistula. The patient improved well after surgery and fully recovered without sequelae after 3 months. In addition, unilateral renal agenesis is one of congenital abnormalities of the kidney and urinary tract, which are the most frequent cause of chronic kidney disease (CKD) in children. This report describes a patient of HWW syndrome with rarely combined vesicovaginal fistula, and highlights the importance of early recognition and management to prevent associated complications. Full article

Complex urogenital malformations are clinically highly relevant; thus, they must be appropriately diagnosed and classified before initiating treatment. Background/Objectives: This study aimed to evaluate the applicability and suitability of the embryological–clinical classification of female genital malformations. Methods: A systematic review of cases of genital malformations reported in the literature from 2000 to 2020 was conducted. Case reports and series with the following combinations: “female genital tract” AND (malformation OR anomaly OR müllerian anomaly OR uterine anomaly OR cervical anomaly OR vaginal anomaly OR cloacal anomaly OR urogenital sinus); and “female genital tract” AND (renal agenesis OR ectopic ureter) were searched. A total of 3124 articles were identified, of which 824 cases of genital malformation were extracted. The characteristics of each malformation were included in a database for further analyses. Results: Using the embryological–clinical classification, 89.9% of the published cases and 86.5% of the 52 cases defined as unclassifiable by their authors have been classified in this review. In 73 cases (72.2%), the classification of the malformation using the AFS system was incomplete because although the type of uterine anomaly of the AFS classification matched that of the embryological–clinical classification, characteristics of the urinary system or the vagina were overlooked when using the AFS system. Following a dispersion matrix, we have been able to show that the embryological–clinical classification system is able to classify and subclassify the genitourinary malformations more accurately. Conclusions: The applicability of the embryological–clinical classification has been confirmed after classifying most of the cases of genital malformation previously published. This system also provides a more complete and accurate classification than other classifying systems exclusively based on Müllerian duct development or uterovaginal parameters, demonstrating its suitability. Full article

It is unclear whether clinical background differs between endometriosis in adolescent patients with obstructive Müllerian anomalies and those without anomalies. The aim of the study is to identify the difference in clinical characteristics of endometriosis in patients with or without obstructive Müllerian anomalies. The study involved 12 patients aged under 24 years old who underwent primary surgery for obstructive Müllerian anomalies and 31 patients aged under 24 years old who underwent surgery for ovarian endometrioma. A total of 6 out of 12 cases with obstructive Müllerian anomalies developed endometriosis (4 Herlyn–Werner–Wunderlich syndrome, 2 non-communicating functional uterine horn, 2 cervical aplasia). The age at surgery was significantly younger in endometriosis with obstructive Müllerian anomalies, compared with those without obstructive Müllerian anomalies (17.8 ± 4.4 vs. 23.1 ± 1.3, p = 0.0007). The rate of endometrioma was 50.0% and the rate of hydrosalpinx was significantly higher (66.7% vs. 0%, p = 0.0002) in the group of obstructive Müllerian anomalies. The recurrence rate of endometriosis was 20.0% in the group of anomalies and 25.9% in the group of those without anomalies. Adolescent patients with obstructive Müllerian anomalies more easily developed endometriosis and co-occurred with higher rate of hematosalipinx. Full article

Accurate diagnosis of Müllerian duct anomalies (MDA) remains a clinical challenge even by direct surgical inspection. Although obstetrical complications are more frequent in women with MDA, some subtypes allow normal reproduction, further delaying the diagnosis. Unicornuate uterus with a rudimentary non-communicating functioning horn is a rare form of MDA, susceptible to many gynecologic and obstetric complications such as miscarriages, premature birth, hematosalpinx, endometriosis, and chronic pelvic pain. We present an entire case pictorial assay including preoperative imaging as well as the surgical correction of the uterine anomaly and the associated complication of an occult unicornuate right uterus with rudimentary non-communicating functioning left horn (Class U4aC0V0/ European Society of Human Reproduction and Embryology/European Society of Gastrointestinal Endoscopy Classification) and its natural evolution following a previous incomplete surgical treatment. The patient had an emergency left adnexectomy for hematosalpinx and ovarian endometrioma at her local county hospital. After five years, the patient presented with severe dysmenorrhea and abdominal endometriosis due to blocked retrograde menstruation from a rudimentary, non-communicating functioning horn. Surgical treatment with the resection of the rudimentary uterine horn, together with the abdominal wall endometriosis lesions, was carried out with good outcomes. Full article

The Mayer–Rokitansky–Küster–Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm³ to 184.3 cm³ with a mean value of 7.9 cm³. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed. Full article

Obstructed hemivagina and ipsilateral renal agenesis/anomaly (OHVIRA) syndrome is a very rare condition affecting girls. The time of diagnosis varies, from cases of prenatal diagnosis up to adulthood, including pregnancy or delivery. Most commonly, it is recognised during puberty and usually as an acute condition. We present a case report of an adolescent girl who underwent the treatment because of acute abdominal pain. The case is interesting due to a previous diagnosis of one-side renal agenesis. It appears to be useful to perform a diagnostic pelvic imaging at the time of diagnosis of renal agenesis or to plan to perform it at the beginning of puberty, to prevent the need for urgent surgery. This management may allow the planning of proper follow-up, minimising the risk of possible complications. Full article

Background: This study aimed to assess the prevalence and course of endometriosis in adolescents with obstructive Müllerian anomalies. Methods: The study group involved 50 adolescents undergoing surgeries (median age 13.5 (range 11.1–18.5)) for rare obstructive malformations of the genital tract: 15 girls had anomalies associated with cryptomenorrhea and 35 were menstruating. The median follow-up period was 2.4 (ranging from 0.1 to 9.5) years. Results: We diagnosed endometriosis in 23 of the 50 subjects (46%), including 10 of the 23 patients (43.5%) with obstructed hemivagina ipsilateral renal anomaly syndrome (OHVIRAS), six of eight patients (75%) with a unicornuate uterus with a non-communicating functional horn, two of three patients (66.7%) with distal vaginal aplasia, and five of five patients (100%) with cervicovaginal aplasia. Persistent dysmenorrhea, following treatment, affected 14 of the 50 adolescents (28%), including 8 of the 17 subjects (47.1%) diagnosed with endometriosis at the time of surgical correction and six adolescents diagnosed with endometriosis during the follow-up. Conclusions: Endometriosis affects about half of young adolescents undergoing surgical treatment of obstructive Müllerian anomalies after menarche. The incidence of endometriosis is highest in girls with cervical aplasia. The risk of developing endometriosis decreases after surgical correction of obstruction but is still significant in patients with uterine anomalies. Full article

Background: The septate uterus is the most common congenital uterine anomaly, and hysteroscopy is the gold standard for diagnosing it. The goal of this meta-analysis is to perform a pooled analysis of the diagnostic performance of two-dimensional transvaginal ultrasonography, two-dimensional transvaginal sonohysterography, three-dimensional transvaginal ultrasound, and three-dimensional transvaginal sonohysterography for the diagnosis of the septate uterus. Methods: Studies published between 1990 and 2022 were searched in PubMed, Scopus, and Web of Science. From 897 citations, we selected eighteen studies to include in this meta-analysis. Results: The mean prevalence of uterine septum in this meta-analysis was 27.8%. Pooled sensitivity and specificity were 83% and 99% for two-dimensional transvaginal ultrasonography (ten studies), 94% and 100% for two-dimensional transvaginal sonohysterography (eight studies), and 98% and 100% for three-dimensional transvaginal ultrasound (seven articles), respectively. The diagnostic accuracy of three-dimensional transvaginal sonohysterography was only described in two studies, and we did not calculate the pooled sensitivity and specificity for this method. Conclusion: Three-dimensional transvaginal ultrasound has the best performance capacity for the diagnosis of the septate uterus. Full article

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of mullerian duct anomalies characterized by the triad of uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis. We report two cases of HWW syndrome in young women with abdominal pain. This diagnosis can easily be missed if a clinician is not aware of the syndrome. In one case, the computed tomography image of obstructed hemivagina with hematocolpos was initially mistaken for a cystic tumor of adnexa by the radiologist; in the other case, correct diagnosis was missed for years despite numerous visits to different hospitals due to lack of awareness of the syndrome. Full article

Background: complete uterine septum, double cervix and vaginal septum is a rare complex Müllerian anomaly affecting patients’ quality of life in terms of fertility and pelvic pain. The aim of our review is to gather the studies concerning the diagnosis and treatment this complex malformation and to describe the related fertility outcomes. Methods: this study was conducted in 2022, according to the criteria of Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) and the protocol was submitted to the International Prospective Register for Systematic Reviews (PROSPERO). PubMed, Scopus and Web of Science electronic databases were searched to find eligible articles. In total, 538 articles were identified through literature research. A total of ten articles satisfied the eligibility criteria and were included in the systematic review. Results: 86 affected women were evaluated, and 71 of them were treated. Almost all patients included in our research presented with primary infertility or with a history of recurrent miscarriages; half of all patients also reported dyspareunia. After surgical treatment, 47 pregnancies were achieved: 41 live birth and ongoing pregnancies and six spontaneous miscarriages occurred; a significantly lower miscarriage rate was reported after surgical treatment. Conclusion: hysteroscopic treatment of U2b C2 V1 anomaly can be safely performed, leading to favorable fertility outcomes, measured as the achievement of pregnancy and a reduction in miscarriage rate. Full article

Congenital Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a Mullerian-duct anomaly that is characterized by agenesis of the uterus and upper part of the vagina. Uterus remnants of varying sizes can often be found. Although a functional uterus is missing, the existence of endometriosis in this patient group has been described in the literature; however, a histopathological comparison of the characteristics of the endometrium within the uterus remnants versus endometriotic peritoneal lesions in the same patient is lacking. Moreover, the characteristics of endometriotic tissue in patients with MRKH syndrome have not been correlated with those of patients with endometriosis without Mullerian anomaly. Patients who underwent laparoscopic neovagina creation with the removal of uterus remnants and possible resection of endometriotic lesions between 2010 and 2022 at the Department of Women’s health of the University of Tuebingen were included in our study. Uterine remnants and endometriotic tissue were evaluated via histopathology and immunohistochemistry and were compared to endometriotic samples from patients without Mullerian anomaly. Endometriosis was detected in nine MRKH patients; in four patients, endometrial remnants could be sufficiently compared to endometriotic lesions. All samples exhibited increased expression of hormonal receptors. In two patients, Ki67 proliferation index was significantly increased in peritoneal endometriotic lesions compared with the endometrium of the remnants. In contrast, endometrium and endometriotic lesions of endometriosis patients did not exhibit any differences in the Ki67 proliferation index. Our results demonstrate distinctive immunohistochemical variability between uterine remnants and endometriotic lesions in patients with MRKH syndrome compared with patients with endometriosis, indicating a possible explanation model of the yet-unknown etiology of endometriosis. For confirmation, investigation of a broader patient collective is necessary. Full article