Search Results (21)

Background: Vaginal reconstruction procedures for patients with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) have the main purpose of restoring the anatomy to increase the quality of life of these patients. To describe the surgical treatment of patients with type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome with complete vaginal agenesis in 10 steps, using a sacropexy technique by a double approach (laparoscopic and perineal), which could help make this procedure more accessible and safer. Methods: The surgical technique was used in a group of three patients diagnosed with MRKH syndrome with vaginal agenesis, in which a neovagina with peritoneal flaps was created, and the reconstruction of the vaginal apex and its sacropexy created the conditions for a favorable and lasting result. Results: Annual reevaluations for up to 5 years revealed a functional neovagina with an average length of approximately 11.33 cm, without stenotic aspects, and no granulation tissue formation. All three cases in which this technique was performed reported sexual activity as expected, excellent quality of life, and good psycho-emotional reintegration. It should be noted that two of the three patients also resolved their marital situation. Conclusions: Although the number of patients in this preliminary report is limited, the surgical technique presented is an effective, safe approach with very good anatomical and functional results at the 5-year follow-up. The favorable surgical outcome of these cases also determined the social integration of the patients, solving some ethnic and religious problems. Full article

Background/Objectives: Endometriosis and urogenital malformation with uterus didelphys and renal agenesis might occur concomitantly, and the question arises whether both entities are associated with each other. Methods: A literature search was conducted in PubMed and Web of Science, using the following search terms: “endometriosis and uterine malformation, endometriosis and Herlyn–Werner–Wunderlich syndrome”, “endometriosis and OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) syndrome” and “uterus didelphys, renal agenesis and endometriosis”. Results: We identified and examined 36 studies, comprising a total of 563 cases with coinciding endometriosis and OHVIRA. The most prevalent symptoms were dysmenorrhea and lower abdominal pain. Renal agenesis occurred more frequently on the right side. In the majority of cases, vaginal septum resection was performed to alleviate hematometrocolpos. Among the 97 cases necessitating abdominal exploration, endometriosis was identified in 61 patients (62.9%), although this figure is most likely an overestimation. However, a significantly heightened risk of endometriosis was evident. Conclusions: This literature review highlights the importance of considering the potential for urogenital malformation and endometriosis in cases of dysmenorrhea during adolescence. Ultrasound examination has proven to be a valuable diagnostic tool for identifying uterine abnormalities and guiding subsequent diagnostic and, if necessary, surgical interventions. Thorough assessment and appropriate management are imperative to mitigating the long-term consequences associated with deep infiltrating endometriosis. 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

Vaginal agenesis (VA) is frequently associated with mullerian agenesis. VA treatments include mechanical dilation and surgical vaginoplasty. We created a vaginal expansion sleeve (VES) as a novel device to progressively lengthen the vaginal canal. This study evaluated the histologic effects of the VES on rat vaginal tissue. The VES is a spring-like device made of proprietary woven cylindrical material and flat resin caps. The VESs were constructed as 25–30 mm, pre-contracted springs, which were secured into the vaginas of six Sprague Dawley rats and allowed to re-expand post-surgically. After one week, the VESs were removed, and the vaginas were harvested and measured in length. Test (n = 6) and control (n = 4) formalin-fixed paraffin-embedded tissues were stained with hematoxylin and eosin (H&E), Masson’s trichrome, and anti-Desmin antibodies. The VESs achieved significant vaginal lengthening. The mean vaginal canal length increased from 20.0 ± 2.4 mm to 23.8 ± 1.2 mm after removal of the VESs (n = 6, p < 0.001), a 19% increase. There was a positive correlation between the expander/tension generated in the vagina and the amount of acute and chronic inflammation. H&E staining revealed increased submucosal eosinophilia in five of the six test tissues. One VES sample that was lengthened to 30 mm long showed evidence of lymphocytic and neutrophilic inflammation. Desmin immunostaining and Masson’s trichrome stain revealed a thinner muscularis with more infiltrative fibrous tissue between muscle fibers in the test tissue compared to the control tissue. Although effective, the VES may provoke at least a transient increase in eosinophils consistent with a localized immune reaction during muscularis remodeling. Full article

In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success. However, intraoperative identification of proper perfusion remains a challeng. This review synthesizes findings from the literature spanning from January 2010 to March 2024, sourced from Medline/PubMed, EMBASE, and other databases, to evaluate the role of indocyanine green (ICG) fluorescence imaging in enhancing surgical outcomes. Specifically, it explores the use of ICG in surgeries related to Hirschsprung disease, anorectal malformations, cloacal reconstructions, vaginal agenesis, bladder augmentation, and the construction of antegrade continence channels. Preliminary evidence suggests that ICG fluorescence significantly aids in intraoperative decision-making by improving the visualization of vascular networks and assessing tissue perfusion. Despite the limited number of studies, initial findings indicate that ICG may offer advantages over traditional clinical assessments for intestinal perfusion. Its application has demonstrated a promising safety profile in pediatric patients, underscoring the need for larger, prospective studies to validate these observations, quantify benefits, and further assess its impact on clinical outcomes. The potential of ICG to enhance pediatric colorectal surgery by providing real-time, accurate perfusion data could significantly improve surgical precision and patient recovery. 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

We present here a case of complex uterine anomaly—obstructed hemivagina with ipsilateral renal agenesis (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome in a 13-year-old girl with a history of recurrent urinary tract infections (rUTI). In the emergency room, a trans-abdominal sonography revealed an ovarian cyst and renal agenesis, without any suspicion of vaginal obstruction. This led to a delay in the diagnosis of this uncommon anomaly. Finally, MRI findings confirmed the presence of OHVIRA syndrome. As the congenital anomalies of the kidney and urinary tract (CAKUT) are present in almost one third of cases associated with genital malformations, urologists should carefully screen patients with rUTI. The patient underwent simultaneous laparoscopy and vaginoscopy, which was in our opinion the most appropriate therapeutic decision. In this article, we are also going to discuss the role of laparoscopy in the management of OHVIRA syndrome, as well as other surgical techniques described in the literature. Full article

A patient in her early 20s presented with constant and progressive lower abdominal and back pain, mainly on the right side of the abdomen, purulent vaginal discharge and pyrexia. A radiological assessment revealed a possible tubo-ovarian abscess and the incidental diagnosis of ipsilateral renal agenesis. The patient was treated for pelvic inflammatory disease (PID); however, after antibiotic administration and since the symptoms did not resolve, an abdominal MRI was requested, which revealed uterus didelphys with two cervices, an obstructed haemivagina and evidence of haematocolpos. The diagnosis of Obstructed Hemi-Vagina with Ipsilateral Renal Agenesis (OHVIRA) syndrome was confirmed, and the patient underwent the excision of the vaginal septum, the drainage of the haematopyocolpos and the laparoscopic drainage of the tubo-ovarian abscess. She achieved a good recovery. Full article

Background: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome, also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Most cases of OHVIRA have been reported in adolescents or adults. Gartner duct cysts, including those manifesting as vaginal wall cysts, are also rare. Fetal OHVIRA syndrome and Gartner duct cysts are difficult to diagnose. Case Presentation: Here, the authors report a case of combined OHVIRA and Gartner duct cyst diagnosed prenatally by ultrasonography, along with a brief review of the relevant published reports. A 30-year-old nulliparous female was referred to our institution at 32 weeks’ gestation for fetal right kidney agenesis. Detailed ultrasonographic examinations using 2D, 3D, and Doppler ultrasounds revealed hydrocolpometra, and uterus didelphys, with a normal anus and right kidney agenesis. Conclusions: When encountering female fetuses with ipsilateral renal agenesis or vaginal cysts, clinicians should be aware of OHVIRA syndrome and Gartner duct cysts and perform systematic ultrasonographic examinations for other genitourinary anomalies. Full article

Vaginal atresia is seen in genetic disorders such as Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, which can cause significant sexual dysfunction. Current treatments include surgical reconstruction or mechanical dilation of the vaginal canal. Mechanical dilation requires patients to be highly motivated and compliant while surgical reconstruction has high rates of complications. This study evaluated a novel vaginal expansion sleeve (VES) method as an alternative treatment for vaginal atresia. The proprietary cylindrical VES is a spring-like device consisting of polyethylene terephthalate helicoid trusses capped at each end with a fixed diameter resin cap for fixation within tissues. Following the development of the VES and mechanical characterization of the force–length relationships within the device, we deployed the VES in Sprague Dawley rat vaginas anchored with nonabsorbable sutures. We measured the VES length–tension relationships and post-implant vaginal canal expansion ex vivo. Vaginal histology was examined before and after implantation of the VES devices. Testing of 30 mm sleeves without caps resulted in an expansion force of 11.7 ± 3.4 N and 2.0 ± 0.1 N at 50% and 40%, respectively. The implanted 20 mm VES resulted in 5.36 mm ± 1.18 expansion of the vaginal canal, a 32.5 ± 23.6% increase (p = 0.004, Student t test). Histological evaluation of the VES implanted tissue showed a significant thinning of the vaginal wall when the VES was implanted. The novel VES device resulted in a significant expansion of the vaginal canal ex vivo. The VES device represents a unique alternative to traditional mechanical dilation therapy in the treatment of vaginal atresia and represents a useful platform for the mechanical distension of hollow compartments, which avoids reconstructive surgeries and progressive dilator approaches. Full article

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis–van Creveld syndrome and two patients with Bardet–Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis–van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Patient 2 had Bardet–Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet–Biedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included global developmental delay, disproportionate short stature, myopia, retinitis pigmentosa, obesity, pyometra with vaginal atresia, bilateral hydronephrosis with ureteropelvic junction obstruction, bilateral genu valgus, post-axial polydactyly feet, and small and thin fingernails and toenails, tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Conclusions: EVC2, BBS2, and BBS7 mutations found in our patients were implicated in malformation syndromes with dental anomalies including tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Full article

Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital malformation of the urogenital tract involving both the müllerian and the wolffian ducts, and it consists of the association of didelphys uterus, ipsilateral obstructed hemivagina, and ipsilateral kidney agenesis. Its etiology is related to the abnormal development of two embryonic structures—mesonephros and paramesonephros—although its precise mechanism is not known, but theories involving signaling molecules and gene expression are studied for potential explanations. Because of its rarity, there is limited literature on this subject. We present a case diagnosed in our department and elaborate on management. In HWW syndrome, symptoms appear after menarche and include pelvic pain, with progressive intensity due to the developing of hematocolpos. Menstruation may be present or absent depending on the type of anomaly. The use of magnetic resonance imaging (MRI) is the most recommended method of investigation since, in most cases, at this age, sexual life has not started yet and transvaginal ultrasound cannot be used. Surgical treatment in our case consisted of an exploratory laparoscopy followed by a vaginal surgical approach to resect the vaginal septum of the obstructed hemivagina. Full article

Background: The ideal timing of genital surgery in differences/disorders of sex development (DSD) is controversial and differs according to the underlying type of DSD. Increasing numbers of persisting sinus as a result of delayed feminizing genitoplasty in DSD patients require interdisciplinary collaboration of pediatric surgeons/urologists and gynecologists. This study focusses on surgical techniques other than bowel vaginoplasties and results of gender assigning surgery in young adolescents. Methods: Data of adolescent and adult patients treated between 2015 and 2022 were analyzed retrospectively: underlying type of malformation, techniques of vaginoplasty, vaginal length and caliber, possibility of sexual intercourse, and temporary vaginal dilatation. Results: A total of 9 patients received a primary vaginoplasty at a median age of 16.75 years (range 10.3–29.25). The underlying anatomical conditions were persistent urogenital sinus (UGS) in 8 patients (3 patients with CAH, 2 patients with XY-DSD, 1 patient with cloacal malformation and missed UGS, 2 patients with UGS only). One patient had a MURCS association. Surgical techniques were total urogenital mobilization and perineal flap vaginoplasty in 4 patients, modified McIndoe vaginoplasty in 4 patients, and a laparoscopic vaginal pull-through in 1 patient. In a median follow-up of 45 months (2–84), all but 1 patient presented with physiological vaginal length and width. Conclusions: If possible, modern treatment concepts delay gender assigning surgery until the participation of the patient in the decision-making process is possible. Optimal treatment concepts are given by transfer of surgical techniques from pediatric urology/surgery by multidisciplinary teams. Techniques other than bowel vaginoplasties are favorable. Full article

The aim of this study was to present a new case of congenital Herlyn–Werner–Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature. A 12-year-old girl presented with severe dysmenorrhea since menarche and magnetic resonance imaging showing a bicornuate uterus, double cervix, right hematometra, and hematosalpinx with ipsilateral renal agenesis, accompanied by a remnant distal ureter with hydroureter. A diagnostic cystoscopy and a reduced-port robot-assisted laparoscopy with chromopertubation were performed in order to identify the anomaly. Uterine didelphys and right cervical dysgenesis with ipsilateral vaginal agenesis, cervical distal ureteral remnant fistula, ureterocele, and renal agenesis were diagnosed on the basis of histopathologic findings, and she subsequently underwent a robotic unilateral right total hysterectomy with salpingectomy. This case report reinforces the importance of the intraoperative biopsy for an accurate diagnosis, despite magnetic resonance imaging being considered the gold-standard diagnostic tool. Full article