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The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis. As teenagers or young women at the time, all women had experienced the diagnostic process in the nonspecialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized health care sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being "deviant" or "flawed". The women continued their diagnostic odyssey beyond the health care system and found online communities that gave them valuable support in living with MRKH syndrome. Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (eg, avoiding "deformity") and addressing all that is normal and functioning (eg, external genitalia and potential for sexual pleasure). In nonurgent conditions, young women should be given the choice to delay a genital examination. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and vagina, sometimes with associated extragenital anomalies. Currently, there is limited literature on pelvic pain and comorbid pain syndromes in people with MRKH. The aims of this scoping review were to summarize existing literature on pelvic and generalized persistent pain syndromes associated with MRKH and to identify knowledge gaps for further research into this field. This scoping review followed the Joanna Briggs Institute framework. The population of interest was patients with a diagnosis of MRKH. MEDLINE, CINAHL, Scopus, Cochrane, Embase, and Emcare databases were searched. Articles that did not meet the inclusion criteria or critical appraisal standards were excluded. The resultant articles were reviewed by 2 independent researchers, and a third was used in cases of disagreement. A descriptive analytical method was used for data analysis. We screened 3348 articles for eligibility. Of these, 39 articles, which described 1353 cases of MRKH, met the criteria. Four studies described baseline pelvic pain in MRKH, 19 described acute presentations, and 13 described postintervention pain levels. Despite the paucity of research, this review found that cyclic pelvic pain was mostly present in women with uterine remnants, whereas pelvic pain in those without remnants was poorly understood. There were no studies exploring generalized persistent pain syndromes in MRKH. Further cross-sectional studies are needed to elucidate the prevalence and levels of pain syndromes in MRKH. [ABSTRACT FROM AUTHOR]

To analyze the features of the epithelia coating neovaginas after vaginoplasty in women affected by Mayer-Rokitansky-Küster-Hauser syndrome We conducted a retrospective analysis of prospectively collected data. Women affected by Rokitansky syndrome who underwent neovaginal biopsy after vaginoplasty (McIndoe surgery, intestinal vaginoplasty, Vecchietti surgery, and Davydov surgery) were included. Macroscopic mucosal features were assessed through clinical examination and the Schilling test. Each biopsy specimen was prepared for examination by light microscopy and in some cases by scanning electron microscopy (SEM). Thirty-six patients (4 McIndoe, 2 intestinal vaginoplasty, 14 Vecchietti, and 16 Davydov) were included. All biopsies were performed without complications. In McIndoe's neovaginas, the mucosal microscopic features were similar to normal skin, with large areas of preserved epithelium, heterogeneous presence of dermal papillae, and superficial keratinization. The characteristics of the intestinal neovagina's surface were similar to those of a sigmoid colon, with well-shaped glands, cylindrical cells, and a secreting mucosa. In Vecchietti neovaginas, the surface the epithelium was flat and multilayered, highly similar to that of a normal vagina, with the presence of glycogen and superficial desquamation. On medium SEM magnification evaluation, the epithelium presented flattened polygonal cells. Finally, in Davydov neovaginas, none of the specimens had persistent mesothelial elements. The squamous neo-epithelium had regular aspects of differentiation with the presence of glycogen. At greater SEM magnification, microridges were evident, with a regular distribution. Each different technique of vaginoplasty leads to unique histological and structural features of the neovagina's mucosa. Knowledge of these elements must be the basis for the choice of the most appropriate intervention. [ABSTRACT FROM AUTHOR]

Puberty transforms a girl into a fertile woman, and its social importance is so great that any deviation from normality may be the cause of considerable embarrassment and anxiety. Delayed puberty in girls is defined as the absence of physical manifestations of puberty by the age of 13 years. Primary amenorrhoea is the absence of menarche and needs to be evaluated in the context of secondary sexual characteristics. Differential diagnoses can be classified according to the level of gonadotrophins. Differences in Sex Development and Complex Obstructed Mullerian Duct Anomalies should be investigated and managed in a specialist centre within a multidisciplinary team. Psychological support is essential. [ABSTRACT FROM AUTHOR]

Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis. [ABSTRACT FROM AUTHOR]

To describe surgical correction of vaginal agenesis via a modified laparoscopic Vecchietti procedure with the goal of disseminating knowledge and improving surgical technique An 18-year-old female presented with primary amenorrhea, age-appropriate secondary sex characteristics, a shallow vagina, and 46,XX karyotype. Imaging showed rudimentary uterine horns and normal ovaries, kidneys, and spine. Diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome type I was made. After an unsuccessful attempt at vaginal dilation and extensive counseling, the patient chose to have a laparoscopic Vecchietti procedure. Vecchietti vaginoplasty eliminates the need for grafts and creates a neovagina with accelerated vaginal dilation by stretching the introital mucosa with a spring mechanism. A modified laparoscopic Vecchietti procedure was performed. Postoperatively, daily suture adjustments were made. When the device was removed after 7 days, the examination revealed a 9-cm vaginal canal, which was maintained with self-dilation. [ABSTRACT FROM AUTHOR]

To understand variations and experiences of vaginal lengthening internationally in individuals with congenital underdevelopment of the uterus, cervix, and upper vagina or Müllerian agenesis In this study, we used a cross-sectional mixed-methods design incorporating quantitative and qualitative questionnaires. Adults with Müllerian agenesis completed questionnaires with quantitative and open-ended qualitative questions about their vaginal lengthening experiences. Data were analyzed using descriptive statistics and inductive thematic analysis. Of 616 respondents meeting inclusion criteria (representing 40 countries), 46% (n = 284) reported no vaginal lengthening intervention. Vaginal lengthening was commonly reported by participants from North America and Europe (59%) and less commonly by participants from Africa, Asia, and South America (16%). Of those who had undergone vaginal lengthening, 72% reported dilator use, 34% coital dilation, and 39% surgery. Four major themes were identified in response to the open-ended vaginal lengthening experience question: (1) difficult physical symptoms, (2) practical and psychosocial challenges, (3) intimate relationships and sexual satisfaction, and (4) impact of experiences with healthcare providers. This study highlights vaginal lengthening practices internationally and shared themes related to significant challenges and positive experiences. The findings show room for improvement in the counseling and care surrounding vaginal lengthening. Future research should investigate factors that influence decision-making about vaginal lengthening and work toward international consensus on best care practices in Müllerian agenesis. [ABSTRACT FROM AUTHOR]

Vaginal agenesis is a rare congenital condition, with an incidence of 1 in 4500 female births. We present a clinical case of vaginal aplasia with cervical atresia in a 31-year-old woman with primary amenorrhea. We aim to report the diagnostic process and provide a comprehensive outline of different possible treatments. The most common etiology of these agenesis cases is Mayer-Rokitansky-Küster-Hauser syndrome associated with uterine aplasia. However, vaginal aplasia can occur in 9 % of cases where the uterus is present. During embryogenesis, the Müllerian ducts give rise to the fallopian tubes, uterus, and upper two-thirds of the vagina, while the lower portion of the vagina develops from the urogenital sinus. Vaginal aplasia arises from a failure in the development of the terminal portion of the paramesonephric ducts. Abdominal pain, especially periodic pain, is the most common symptom, followed by primary amenorrhea. MRI is considered the gold standard for the diagnosis and precise description of female genital tract anomalies. Total hysterectomy remains a preferred option for cases of complete vaginal atresia to mitigate the risk of cervical or vaginal stenosis, adhesions, and pelvic inflammation resulting from poor menstrual blood drainage. • Vaginal agenesis is rare, with the most common symptoms being periodic abdominal pain and primary amenorrhea, and a pelvic mass. • A clinical case of a 31-year-old woman with vaginal aplasia and cervical atresia is presented. • MRI is the gold standard for diagnosing female genital tract anomalies. • Total hysterectomy is often preferred in complete vaginal atresia cases to prevent complications [ABSTRACT FROM AUTHOR]

Rectovaginal fistula is a complication that may occur due to rectal injury during vaginal reconstructive surgery. To prevent these complications, the recognition of the injury is an important factor so that primary repair can be done. The primary repair can reduce the risk of complications such as fistula formation, and also reduce the physical and psychological impact on the patient. A 33-year-old woman, came with a chief complaint of fecal leakage from the vagina and abdominal pain three months before admission with a history of vaginal reconstructive surgery due to vaginal agenesis. Eleven years after the reconstruction, the patient was diagnosed with recurrent obstruction caused by vaginal synechia. During the surgery of synechia release, rectum injury occurred. Even though primary closure repair was done at that time, several months later there was a complication of rectovaginal fistule formation in the form of fecal leakage from the vagina. The corrective surgery is performed in collaboration with a surgical gastroenterologist. Iatrogenic rectal injury may occur during gynecological surgery. A fistula that occurs after the reconstruction of vaginal agenesis is a high-type rectovaginal fistula, making the repairs more complex. Collaboration surgery between surgical gastroenterologist and gynecologist may be an option in such cases. Rectovaginal fistula is a rare but serious complication of vaginal reconstructive surgery. Early recognition, immediate management, and postoperative follow-up are essential in cases of rectal injury during vaginal reconstructive surgery. • Rectovaginal fistula is a complication that may occur due to rectal injury during vaginal reconstructive surgery. • The primary repair can reduce the risk of complication such as fistula formation, and reduce the physical and psychological impact on the patient. • Early recognition and management with postoperative follow-up are essential in cases of rectal injury during vaginal reconstructive surgery. [ABSTRACT FROM AUTHOR]

• The use of autologous buccal mucosa grafts for vaginal reconstruction provides graft material histologically similar to vaginal tissue, a hidden donor site scar, and avoids major abdominal surgery. • An intravaginal wound vacuum can be easily constructed and has the potential to promote excellent graft take and graft healing. Vaginal reconstruction with autologous buccal mucosa graft offers a promising alternative to the use of skin grafts and vascularized intestinal segments. Given the novelty of this procedure, the optimal approach to postoperative wound management remains unclear with current practices often requiring many months of vaginal stents/molds. This study aims to evaluate a newly developed negative pressure intravaginal wound vacuum placed at the conclusion of the vaginoplasty with the goals of facilitating graft take and healing. A retrospective review of patients (age 12–21 years) who underwent eight primary and secondary vaginoplasty procedures using autologous buccal mucosa coupled with intravaginal wound vacuum placement was performed. Vaginal reconstruction with fenestrated full-thickness buccal mucosa graft and intravaginal wound vacuum placement was successfully performed eight times in seven patients at a median age of 15.6 years. Four patients underwent robotic vaginal pull-through with buccal mucosa serving as an interposition graft, and four patients underwent vaginoplasty with buccal graft alone. All cases had excellent engraftment at time of wound vacuum removal on postoperative day seven and had healthy-appearing buccal mucosa at a mean follow-up of 148 days. Postoperatively, one patient developed a stricture at the anastomosis between native vagina and buccal mucosa graft, requiring a second buccal mucosa graft six months after the first operation. The use of autologous buccal mucosa graft for primary and secondary vaginal reconstruction coupled with intravaginal wound vacuum therapy offers a promising new approach. Negative pressure wound vacuum therapy may provide a more optimal wound healing environment for improved outcomes. Retrospective Study Level IV [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, as congenital anomaly of the female reproductive tract, is characterized by the congenital absence of uterus and vagina. Dilation maneuver was recommended as the nonsurgical treatment for these patients. However, only several cases were reported depicting the prolapse of the dilated neovagina of patients with MRKH syndrome. We report our own experiences in treating 2 patients with neovaginal prolapse MRKH syndrome receiving ischial spinous fascia fixation (ISFF) and reviewed neovaginal prolapse occurrence in MRKH syndrome. In our approach to evaluating the anatomic and functional outcome after operation, we compared the prolapse stage with Pelvic Organ Prolapse Quantification score and analyzed sexual activities by the standardized Female Sexual Function Index 1 (FSFI) and Modified Body Image Scale 2 (MBIS). Both subjective and objective improvement were observed in these 2 patients. [ABSTRACT FROM AUTHOR]

Vaginal agenesis is a rare condition worldwide. Most reported cases were accompanied by the absence of uterus or uterine hypoplasia; for patients with functional endometrium, hysterectomy was most likely to be conducted to lower postoperative complications. Based on our successful experience in vaginoplasty with autologous buccal mucosal, the purpose of this article is to discuss the surgical strategies in the reconstruction of neovaginal for vaginal agenesis patients with functional uterus and cervical hypoplasia. The uterus was preserved in our procedure, and the cervicoplasty was performed to connect the uterine cavity with the neovagina. After the vaginal cavity was formed, the cervix was confirmed and fixed. With the assistance of laparoscope, the direction and angle of the cervix and the uterine body were observed and confirmed. An incision was made in cervix to connect the uterine cavity, and a Foley's catheter was inserted. The newly formed opening of cervix and neovagina was covered by autologous buccal mucosal. The connection between neovagina and cervix uteri was successfully conducted in patient with functional uterus. Unimpeded and regular menstrual was achieved, and the cyclic abdominal pain was disappeared. No complications were observed. For patients without functional uterus, vaginoplasty with autologous buccal mucosal can be conducted. However, fertility-preserving surgery should be the primary choice in patients with functional endometrium. It can be concluded from our experience that the utero-vaginal connection with the assistance of laparoscope and the use of autologous buccal mucosa is a promising way to achieve ideal outcomes. [ABSTRACT FROM AUTHOR]

To review the currently available methods for surgical and nonsurgical neovaginal creation with an additional focus on situations requiring vaginal stretching, replacement, or augmentation and the management of vaginal stenosis or stricture. Review of the existing literature PUBMED search with key words vaginal agenesis, neovaginal creation, vaginoplasty, vaginal stretching, vaginal augmentation, vaginal stenosis, outcomes of vaginoplasty, Mullerian anomalies, vaginal anomalies The need to perform vaginal stretching, replacement, or augmentation will vary depending on the underlying reproductive tract condition. A variety of techniques have been described to performed vaginal stretching, replacement, or augmentation. There are risks and benefits to each technique. Vaginal stricture and stenosis remain difficult problems given the high rates of these complications in patients undergoing these procedures. Although several techniques can alleviate this problem, they rely on the thickness of the stenosis and the location of the stenosis within the vagina. [ABSTRACT FROM AUTHOR]

Study Objective: To investigate the clinical appearance and morphologic and ultrastructural aspects of the mucosa of the peritoneal neovagina after laparoscopic Davydov neovaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome.Design: The study group was a prospective, observational, experimental cohort of cases treated in the same institution between 2015 and 2019. Patients were followed up at 3, 6, and 12 months after surgery and then every 12 months.Setting: Single-center academic institution and teaching hospital in Milan, Italy.Patients: Fifty-one consecutive subjects with clinical and imaging diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome surgically treated by the same team and postoperatively followed.Interventions: All the subjects underwent the same standardized surgical procedure and thereafter were followed up at 3, 6, and 12 months after surgery and then every 12 months; a minimum follow-up of 12 months was achieved in all cases. Vaginoscopy and Schiller test were performed at each follow-up visit, and a biopsy specimen of the neovagina was obtained in a limited number of patients (6 out of 51) for light microscopy (LM) and scanning electron microscopy (SEM) analysis of the tissue.Measurements and Main Results: In vaginoscopy, the neovaginal mucosa appeared homogeneous, smooth, and pink all along the neovaginal tract; the Schiller test detected iodine positivity at different degrees of extension upward from the hymenal ring, starting at 3 months postoperatively with almost complete positivity between 6 to 12 months in all cases. LM demonstrated adequate thickness and differentiation of the new mucosa along with the presence of glycogen storage; SEM revealed an ultrastructural surface appearance very close to normality. The main difference compared with a normal vagina was the reduced presence of vaginal mucosal folds.Conclusion: Under different techniques (vaginoscopy, Schiller test, LM, and SEM), a minimum of 6 months after surgery, the peritoneal neovagina epithelium showed aspects comparable to the natal mucosa of the vagina. [ABSTRACT FROM AUTHOR]

Although it has been clearly stated that vaginal dilation must be considered the first-line treatment for clinical conditions characterized by an absent or hypoplastic vagina, mainly Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a great number of scientific papers on surgical vaginal reconstructions are reported every year. This wide variety of surgical techniques (more than 10) are recognized and performed worldwide, making it difficult to compare results and define an evidence-based approach. Standardized treatment should be considered even more important in the pediatric and adolescent population for the implications offered by the uterus transplantation scenario. [ABSTRACT FROM AUTHOR]

Puberty transforms a girl into a fertile woman, and its social importance is so great that any deviation from normality may be the cause of considerable embarrassment and anxiety. Delayed puberty in girls is defined as the absence of physical manifestations of puberty by the age of 13 years. Primary amenorrhoea is the absence of menarche and needs to be evaluated in the context of secondary sexual characteristics. Differential diagnoses can be classified according to the level of gonadotrophins. Differences in Sex Development and Complex Obstructed Mullerian Duct Anomalies should be investigated and managed in a specialist centre within a multidisciplinary team. Psychological support is essential. [ABSTRACT FROM AUTHOR]

• Vaginal agenesis is a complex pediatric condition that lead to long-term urinary, gastrointestinal, and sexual dysfunction. • A meticulous physical examination and in-depth diagnostic investigations are necessary to determine the appropriate surgical management. • Reconstruction of neovagina can be retrieved from the ileum. Vaginal agenesis with anorectal malformations is a complex pediatric condition that adversely affects various physiological processes in the body. It may cause disturbances in defecation and urination, abnormalities in the urinary and gastrointestinal tract, dysfunction of the genital and reproductive organs, and sexual function disorders. The complexity in the surgical management of vaginal agenesis includes the selection of a functional reconstruction technique for anal and vaginal formation, timing of the reconstruction, and management of complications in the associated organ system. Herein, we describe a patient with Mayer–Rokitansky–Küster–Hauser syndrome accompanied by a rectovesical fistula. Other abnormalities, such as microcephaly, polydactyly, long urethral abnormalities resembling the male urethra, and complications in the kidney and urinary tract, were observed in the patient. The associated complications included recurrent urinary tract infections, urinary overflow incontinence, vesicoureteric reflux, hydroureter, and left renal hydronephrosis. The patient underwent posterior sagittal anorectoplasty surgery and vaginal reconstruction. The long-term vaginal physiological development of patients with this condition remains unknown. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a female reproductive disorder characterized by the absence or underdevelopment of the uterus, cervix and vagina. Limited research has examined factors related to psychological adjustment in MRKH. This study aimed to explore associations among illness representations, self-concept, psychological distress, and self-esteem in MRKH. Cross-sectional. Participants were recruited globally online and from patient meetings. A total of 263 patients with MRKH (age 16.1-74.4 years; mean = 31.7 years) completed questionnaires. None. Validated self-reported measures of psychological distress and self-esteem (outcomes) and illness representations, self-concept, social support-seeking, and positive affect (hypothesized correlates) were explored in correlation and hierarchical regression analyses, alongside demographic and clinical variables. Younger age and shorter time since diagnosis was associated with higher distress and lower self-esteem. Patients with MRKH reported significantly higher distress and lower self-esteem than the general population. Higher distress and lower self-esteem were associated with higher reported engulfment (defining one's identity or feeling consumed by MRKH) and beliefs about the serious consequences of MRKH, and lower reported MRKH coherence, enrichment (positive changes to self-identity because of MRKH) and positive affect. Findings suggest that the impact of MRKH on identity plays an important role in adjustment. High perceived coherence and maintenance of positive affect may play a protective role in psychological adjustment. A 12-month follow-up study is planned to examine associations among these variables longitudinally. Baseline data suggest that early availability of psychological support would be beneficial, and interventions focused on identity and psychoeducation about MRKH would be valuable. [ABSTRACT FROM AUTHOR]

Ehlers-Danlos syndromes (EDS) are a heterogenous group of connective tissue disorders characterized by defective collagen production. Patients with EDS have lax and fragile connective tissue in their joints, skin, blood vessels, and hollow organs. This can lead to, among other complications, joint hypermobility, aneurysms, organ prolapse, and musculoskeletal chronic pain. Given that patients with vaginal agenesis, which occurs with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, often require vaginal dilation as part of their treatment, tissue elasticity and fragility are important considerations. This case report aims to describe the intersection of MRKH and EDS and its impact on vaginal dilation. A 16-year-old girl with joint hypermobility and type III EDS presented with primary amenorrhea and a karyotype of 46 XX. Magnetic resonance imaging confirmed an absent uterus, cervix, and upper vagina. Physical examination showed Tanner V breasts and Tanner IV pubic hair, and an external genital examination revealed a blind-ending, 1-cm vaginal dimple. The patient was diagnosed with MRKH. Following her diagnosis, she received vaginal dilation instruction and returned for follow-up 2 months later, having quickly progressed to the largest vaginal dilator without symptoms of bleeding, pain, or dysuria. In that timeframe, her vaginal dimple had increased from 1 cm to 7-8 cm in depth, a rate much faster than is typically seen. Because of this rapid progress, a urogenital examination was performed. There was no evidence of urethral abnormality, perforation, or vaginal prolapse. Recognition of EDS in patients with Müllerian anomalies has important implications for safe and effective vaginal dilation. All patients using vaginal dilation to lengthen the vagina require education on the technique. This need is heightened in patients with EDS in order to prevent accidental dilation of the urethra due to their tissue elasticity, to avoid tissue prolapse, and to prevent the theoretical risk of vaginal perforation. [ABSTRACT FROM AUTHOR]

Anorectal malformations (ARMs) represent a complex spectrum of anorectal and genitourinary anomalies and a paucity of evidence is available on long-term urologic outcomes in all ARM subtypes. It was our subjective bias from being a referral center for ARM patients that the subtype of rectovestibular fistula and absent vagina had higher risk of renal and bladder abnormalities than typical rectovestibular fistula patients. Therefore, to confirm or refute our clinical suspicions, the purpose of this study was to review this specific cohort of ARM patients and describe both the clinical urological and urodynamic outcomes. A retrospective cohort study was performed for 120 patients who were treated for ARM and vaginal replacement at our institution between 1991 and 2017. Fifteen patients with rectovestibular fistula and absent vagina were included in our review. Demographic and clinical data were abstracted from their medical records, including urodynamic findings, need for clean intermittent catheterization (CIC), urinary continence, and renal function. Vaginal replacement surgery was undertaken concomitantly with ARM repair in 10 of the 15 patients (67%). One patient was lost to follow up, and mean follow up postoperatively was 39 months. In all but one patient, rectum or colon was used as the substrate for vaginal replacement. Of the 15 patients, 13 had continence data available. A total of 10 patients (77%) were able to achieve social continence. Overall six patients used CIC to manage their bladder and 40% of continent patients used CIC. Urinary continence outcomes in patients who had partial vaginal replacement compared to those with total vaginal replacement did not reveal a clinically significant difference. Continence was achieved in 3/4 patients (75%) with a history of tethered cord compared to 7/9 patients (78%) without a history of tethered cord release. Urodynamics were performed postoperatively in 7 of the 157 patients (47%). Uninhibited detrusor contractions (UDCs) were present in 3 out of 7 patients, and a cystometric capacity greater than expected was noted in 4 patients. Additionally, 2 patients had end filling detrusor pressure greater than 40 cm H2O. GFR data were available for 13 of the 15 patients and (85%) were classified as chronic kidney disease (CKD) stage I or not having any significant loss of renal function. In this cohort of rectovestibular fistula and absent vagina, 77% reported achieving urinary continence. However CIC was employed in 40% of the patients which is higher than prior published noncloaca female ARM patient population. Urodynamic abnormalities were noted when performed and led to change in bladder management. Renal function measured with GFR was normal in 85%. Patients with rectovestibular fistula and absent vagina benefit from urologic screening given higher rates of lower urinary tract dysfunction that can require CIC to protect the upper urinary tract and achieve urinary continence. Case series. Level IV. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser syndrome is the second most common cause of primary amenorrhea, trailing only to gonadal dysgenesis. Neovaginoplasty is an appropriate treatment option for patients who have failed dilation therapy. Several biomaterials have been used in this procedure, including peritoneum, amnion, skin grafts, and myocutaneous flaps. Nile Tilapia Fish Skin has noninfectious microbiota, morphologic structure comparable to human skin, and high in vivo bioresorption. In addition, it showed good outcomes when used as a xenograft for burn treatment. Thus, we suggest it as a new biologic graft for vaginal agenesis management. In this descriptive study, neovaginoplasty using Nile Tilapia Fish Skin offered 3 patients an anatomic and functional neovagina via a simple method with potential long-term effectiveness. When postsurgical dilation was performed correctly, a vaginal length greater than 6 cm was maintained at 180 days follow-up. Histologic and immunohistochemical analyses revealed the presence of stratified squamous epithelium with high expression of cytokeratins and fibroblast growth factor, matching the characteristics of normal adult vaginal tissue. We believe that further studies will show Nile Tilapia Fish Skin to be a relevant option in the therapeutic arsenal of Mayer-Rokitansky-Küster-Hauser syndrome. [ABSTRACT FROM AUTHOR]

The prevalence of congenital cervical agenesis or dysgenesis ranges from 1/80,000 to 1/100,000, and in about 50% of these cases it coexists with congenital vaginal agenesis. This narrative review summarizes the contemporary knowledge in the field of conservative surgical restoration of the reproductive tract. The management of congenital cervical malformations aims to [1] provide relief from the obstructive symptoms, [2] establish normal sexual function, and [3] preserve the uterus for future fertility. In cases of cervical agenesis and vaginal aplasia, the surgical approach involves the creation of neovagina, the creation of neocervix, and then subsequent restoration of the continuity of the genital tract. In cases where vagina is not congenitally absent, the surgical approach involves either a direct uterovaginal anastomosis or initial creation of neocervix and then subsequent restoration of the continuity of the genital tract. The neocervix can be surgically created with small intestinal submucosa, split-thickness skin graft, full-thickness skin graft, peritoneal flap, or vaginal mucosa lined with a polytetrafluoroethylene graft. Most of the published cases report long-term menstruation and sporadic pregnancies. Conservative surgery of cervical congenital malformations could serve as a first-line treatment. Sexual function and menstruation are established in the majority of patients. Extirpatory surgery may be preserved for surgical failures after initial restoration of the continuity of uterus-cervix-vagina or in cases with more complex anatomy. [ABSTRACT FROM AUTHOR]

Our objective was to provide a minimally invasive neovaginoplasty technique to construct a nearly physiologic vagina to facilitate sexual functioning and appropriate vaginal length in patients with congenital vaginal agenesis. This retrospective study at a tertiary care hospital comprised 52 patients with congenital vaginal agenesis because of Mayer-Rokitansky-Küster-Hauser syndrome or androgen insensitivity syndrome presented for vaginal reconstruction. Modified McIndoe vaginoplasty was done in all patients between 2010 and 2018 using a vaginal mold created with glove, nonadherent petroleum gauze, and Interceed absorbable adhesion barrier (Ethicon, Johnson & Johnson, Somerville, NJ) that was placed in the neovagina space created between the bladder and rectum for 7 days. Operative details, complications, length and width of the neovagina, and functional outcome were evaluated. The mean operation time was 35 minutes. The mean length of the constructed neovagina was 8.4 cm × 3.4 cm at 6 weeks follow-up. Epithelialization was completed by 4 to 6 months. All patients reported satisfactory sexual activity with no pain and good mucosal sensitivity. This modified neovaginoplasty technique is easy to perform, involves painless postoperative dilatations as the cornerstone of treatment, and results in adequate secretion, allowing lubrication and acceptable physiologic results. [ABSTRACT FROM AUTHOR]

Objective: To introduce the minimally invasive Vecchietti procedure based on single-port laparoscopy with self-made surgical instruments for the surgical management of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).Design: Surgical video article. The approval of the Institutional Review Board and written consent from the patient were obtained.Setting: University hospital.Patient(s): A 22-year-old woman presented with primary amenorrhea and inability to participate in penetrative sexual intercourse. A gynecological examination revealed a phenotypically normal vulva and absence of the vagina. A normal 46,XX karyotype was expressed. Magnetic resonance imaging and ultrasonic imaging of the abdomen and pelvis indicated that the ovaries were normal in size and there was vaginal agenesis with rudimentary uterus. No other congenital malformations were present.Intervention(s): The modified Vecchietti procedure involved a transvaginal operation and laparoscopic surgery. The epidural catheter was stretched and made into two wires that were tucked into the core of the Veress needle and then folded into four strings for perineal puncture. A transverse incision of about 3 cm was made in the center of the navel, layer by layer into the abdomen, and placed in a self-made single port (made of a small wound protector and an 8-inch glove), introducing the laparoscope. Under laparoscopic surveillance, the Veress needle was inserted through the vesicorectal space guided by the index finger, which was placed in the rectum. The epidural catheter was pumped from the core into the abdominal cavity under laparoscopy. Subsequently, cystoscopy was performed to ensure that no bladder perforation occurred during the needle insertion. The ball-shaped acrylic device and the two rubber stoppers were attached to the epidural catheter of the vulva. An epidural puncture needle with wire perforated the peritoneum through McBurney's point and the opposite McBurney's point, pulling the epidural catheter out of the abdominal cavity. The epidural catheter was curled around the gauze rolls until the ball-shaped device could be accommodated into the newly created cavity at a sufficient depth. After the surgery, the top of neovagina was lifted about 1 cm every day by tightening gauze rolls to increase the traction, until a neovagina 9 cm long was achieved.Main Outcome Measure(s): The clinical and anatomical data such as the operative time, intraoperative bleeding, duration of hospitalization, and measurement of the final length of the newly created canal 30 days after surgery and 3 months after surgery.Result(s): The operative time was 30 minutes, and the intraoperative blood loss was 10 mL. The duration of hospitalization was 10 days. Before discharge, the vaginal depth was 9 cm at 5 days after the surgery, and the self-made traction system was removed. A plastic mold was then inserted using povidone-iodine. The vaginal dilator had to be worn day and night. The patient was advised to sit at the corner of a hard bed or chair from time to time to enhance the dilated effect of the vaginal mold. Three months after the surgery, it could be worn each night until regular sexual intercourse was initiated. The canal length 30 days and 3 months after the surgery was nearly 9 cm.Conclusion(s): The modified Vecchietti vaginoplasty is a simple, safe, cost-effective, and minimally invasive procedure, offering an anatomic and functional neovagina for MRKH patients. [ABSTRACT FROM AUTHOR]

Vaginal dilator therapy is used to increase vaginal length for vaginal agenesis, to increase vaginal width for vaginal narrowing, and to prevent or treat stenosis after vaginal surgery. Although it is an effective therapy, many reproductive health providers have had little training on how to guide patients through this therapy. The purpose of this review is to educate providers on how to assess patient readiness and how to support patients through the process of vaginal dilation. [ABSTRACT FROM AUTHOR]

To summarize the self-reported sexual experiences of women with vaginal agenesis before treatment and discuss the clinical implications. A retrospective review of pretreatment baseline sexuality data and medical records of women with vaginal agenesis seeking vaginal construction. A specialist multidisciplinary center for women with genital differences associated with diverse sex development. One hundred thirty-seven women with untreated vaginal agenesis associated with Mayer-Rokitansky-Küster-Hauser Syndrome and complete androgen insensitivity syndrome aged 15 to 41 years (mean age, 20 years). Gynecological examination and completion of questionnaires. (1) Sexual Experiences Questionnaire; (2) Multidimensional Sexuality Questionnaire; (3) Vaginal Self-Perceptions; and (4) vaginal length. A sizable proportion of women reported having had sexually intimate experiences before any medical intervention on the vagina. Vaginal length, which ranged from dimple to 7 cm and averaged 2.7 cm for the cohort, was unrelated to the range of sexual experiences. Most women perceived their vagina as being too small, but less than half believed that a sexual partner would notice this. Two-thirds of the cohort subsequently completed the dilation program, which was not predicted by pretreatment vaginal length or sexual experience. Contrary to the assumption that a vagina of certain dimensions is a prerequisite for women to "have sex," many women with Mayer-Rokitansky-Küster-Hauser syndrome and complete androgen insensitivity syndrome reported having experienced genital and nongenital sexual activities with no medical interventions. It is recommended that treatment providers affirm women's capacity for sexual intimacy, relationships, and enjoyment before they introduce the topic of vaginal construction as a non-urgent choice. [ABSTRACT FROM AUTHOR]

Study Objective: To study the outcome of a novel method of laparoscopic neovaginal reconstruction using rudimentary uterine horn serosa and the pelvic peritoneum as a graft.Design: Canadian Task Force classification II-1.Setting: A university hospital.Patients: A retrospective study of 14 patients from 2000 to 2014 of patients with vaginal agenesis who underwent laparoscopic neovagina reconstruction using rudimentary uterine horn serosa and the pelvic peritoneum as a graft.Intervention: Patients with vaginal agenesis associated with müllerian agenesis who requested surgery. Tertiary referral center and laparoscopic unit. The creation of a neovagina using rudimentary uterine horn serosa and the pelvic peritoneum as a graft via a combined laparoscopic and vaginal route.Measurements and Main Results: Data were collected retrospectively including postoperative vaginal length and width, complications, stenosis or reoperations, dyspareunia, and sexual satisfaction. There were no major complications from the surgery with no rectal perforation or bladder or ureteric injury. The postoperative mean (±SD) vaginal length was 6.0±0.7 cm and a width of 2 fingerbreadths. The mean operation time was 142.7±45.9 min. Median blood loss was 100 ml (range: 10 to 300 mL). The mean duration of the hospital stay was 6.6±1.6 days. The follow-up period ranged from 3 to 84 months with a median follow-up of 11 months.Conclusion: Lee's method of neovaginoplasty using rudimentary uterine horn serosa and the pelvic peritoneum as a graft is a good method for neovagina creation with minimal morbidity, fast recovery, and minimal complications. This method results in good anatomic and functional outcome and can be a method that is widely used. [ABSTRACT FROM AUTHOR]

Objective: To describe how to create an inflatable vaginal stent for use in McIndoe vaginoplasty that can be constructed using standard operating room supplies.Design: Step-by-step video instructions that demonstrate how to construct and use an inflatable vaginal stent. (This video article was exempt from institutional review board approval.) SETTING: Academic hospital.Patient(s): A woman presenting with vaginal agenesis requiring a McIndoe vaginoplasty for the creation of a neovagina.Intervention(s): A novel inflatable vaginal stent compliant with operating room procedures that is radio-opaque, functional, and can be used for patients with or without a functional uterus. The device is modeled after the effective inflatable vaginal stent that was previously commercially available but is no longer produced. Although a vaginal stent may be created in the operating room by placing surgical sponges inside a sterilized condom, many operating rooms have restrictions on equipment that can be brought into the operating room and special criteria for how to sterilize this equipment, and there are also restrictions against leaving non-radio-opaque objects "inside" the patient. The novel inflatable vaginal stent we have developed has multiple advantages compared with a rigid dilator: it is deflatable, so it does not cause trauma or interrupt the delicate tissue graft during insertion, removal, or repositioning; it is firm enough to conform and circumferentially press the tissue graft against the dissected vaginal space but is soft enough to decrease the risk of pressure necrosis or damage to the urethra; and it has a drainage port to prevent the buildup of a fluid pocket that could interfere with graft adherence. Our stent incorporates all these unique properties and can be easily constructed using sterile operating room supplies. The construction of this device requires a silicone Foley catheter, sterile foam sponges from a vaginal prep kit, a sterile radio-opaque sponge, a sterile vaginal ultrasound probe cover, a long Kelly, a 60-cc catheter tip syringe, a ruler, scissors, 0-vicryl suture, and sterile gloves.Main Outcome Measure(s): Effectiveness of a self-made inflatable vaginal stent using standard operating room supplies that meets operating room protocol standards.Result(s): A standard dose of prophylactic antibiotics should be administered preoperatively to prevent surgical site infection. After placement of the tissue graft in the dissected neovagina cavity, the vaginal stent is placed and slowly inflated to circumferentially apply the tissue graft against the dissected vaginal space. The stent remains in place for 7 days and then should be removed in the operating room to allow for an examination under anesthesia, which provides the ideal setting to best evaluate the initial graft adherence. After careful inspection of the neovagina and tissue graft, a standard silicone vaginal mold is placed to maintain vaginal patency and prevent stricture of the tissue graft. The silicone mold should remain in place continuously until complete graft adherence occurs (approximately 4 to 6 weeks), and then it can be worn nightly until the patient is regularly sexually active. If at any point the patient discontinues nightly use of the silicone mold before regular sexual activity, vaginal stricture and a decrease in vaginal caliber will occur.Conclusion(s): Our novel inflatable vaginal stent is useful to surgeons performing a McIndoe vaginoplasty for vaginal agenesis with or without a uterus. It is compliant with operating room protocols and restrictions, as it is constructed from operating room supplies and is radio-opaque. Moreover, it is adjustable in size and effective in applying circumferential pressure for graft adherence. When used for segmental vaginal agenesis, the Foley catheter may be advanced through the cervix, then the balloon can be inflated, to stabilize the position of the stent during the first week postoperatively. The main limitation of this device is that it must be constructed by the surgeon, but the advantage of self-constructing the stent is that the size and shape can be tailored to conform to each individual patient. We prefer this inflatable vaginal stent to a rigid vaginal dilator in the first week of tissue healing to allow for easy insertion and removal of the stent without disrupting the tissue graft, to help prevent tissue necrosis, and to provide a fluid drainage port during graft adherence. We recommend this device as an ideal option for surgeons to consider when performing a McIndoe vaginoplasty. [ABSTRACT FROM AUTHOR]

Objective: To compare the long-term anatomical outcome and complications in treatments of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Design: A historical comparative follow-up study using medical chart reviews.Setting: Public hospitals.Patient(s): A nationwide cohort of patients diagnosed with MRKH syndrome (n = 168).Intervention(s): McIndoe vaginoplasty (n = 54), self-dilation (n = 60), coital dilation (n = 20), Baldwin vaginoplasty (n = 4), Williams vaginoplasty (n = 3), Davydov vaginoplasty (n = 2), or no treatment (n = 29).Main Outcome Measures(s): Mean vaginal depth at follow-up, anatomical treatment success rates at levels of ≥6 cm, ≥7 cm, and ≥8 cm, complications, and resurgery.Result(s): Mean vaginal depths were 7.4 cm (95% confidence interval [CI] 6.8-8.1 cm), 7.3 cm (95% CI 6.7-7.9 cm), and 8.7 cm (95% CI 7.9-9.5 cm) at follow-up in patients treated by McIndoe vaginoplasty, self-dilation, and coital dilation, respectively. Overall complication rates in the three groups were 35/54 (65%), 21/52 (35%), and 1/20 (5%), respectively. Eighteen (33%) of the patients who underwent McIndoe vaginoplasty needed resurgery.Conclusion(s): Our findings support the current recommendations of dilation therapy as the first-line treatment of vaginal agenesis and emphasize the relevance of coital dilation in patients able to regularly engage in coital activity. However, further studies of functional outcome and patient satisfaction are needed. [ABSTRACT FROM AUTHOR]

SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c.70del20 variant, which has been frequently reported in individuals with SOX2-related anophthalmia. Importantly, our patient lacked major ocular phenotype but showed vaginal agenesis, a feature never reported before. Although the involvement of male urogenital tract (cryptorchidism, hypospadias, small penis), is a well known consequence of SOX2 variants, their effect on the female genitalia has never been properly addressed, even considering the paradoxical female excess of SOX2 cases in the literature. Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed. Moreover, our case strengthens the role of SOX2 as a master regulator of female gonadal differentiation, as widely demonstrated for other SOX genes related to 46, XX sex reversal, such as SOX3 and SOX9 . [ABSTRACT FROM AUTHOR]

Study Objective To investigate specialist clinicians' experiences of treating vaginal agenesis. Design Semi-structured interviews. Setting Twelve hospitals in Britain and Sweden. Participants Thirty-two health professionals connected to multidisciplinary teams (MDTs) including medical specialists and psychologists. Interventions and Main Outcome Measures Theoretical thematic analysis of recorded verbatim data. Results The gynecologist and psychologist interviewees share certain observations including the importance of psychological readiness for and appropriate timing of treatment. Three overlapping themes are identified in our theoretical analysis of the MDT clinicians' talk: (1) the stigma of vaginal agenesis and the pressure to be “normal” can lead patients to minimize the time, effort, physical discomfort, and emotional cost inherent in treatment. (2) Under pressure, treatment might be presented to patients with insufficient attention to the potential psychological effect of the language used. Furthermore, the opportunity to question what is “normal” in sex is generally not taken up. It can be challenging to help the women to transcend their medicalized experiences to come to experiencing their bodies as sexual and enjoyable. (3) The reality of treatment demands, which are not always adequately processed before treatment, can lead to discontinuation and even disengagement with services. Conclusion The MDT clinicians in this study emphasized the importance of psychological input in vaginal construction. However, such input should proactively question social norms about how women's genitalia should appear and function. Furthermore, rather than steering patients (back) to treatment, the entire MDT could more explicitly question social norms and help the women to do the same. By shifting the definition of success from anatomy to personal agency, the clinical focus is transformed from treatment to women. [ABSTRACT FROM AUTHOR]

Objective: To assess the outcome of amnion vaginoplasty in cases of vaginal agenesis due to Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome managed at the authors' institution.Design: Retrospective study.Setting: Tertiary care hospital.Patient(s): Fifty women with MRKH who underwent neovaginoplasty.Intervention(s): Modified McIndoe's vaginoplasty was done in all the patients, using human amnion graft.Main Outcome Measure(s): Functional status assessed by Female Sexual Function Index, anatomic status (length and width of neovagina), and epithelialization of vagina.Result(s): Mean (±SD) vaginal length after surgery was 8.2 ± 1 cm. Mean vaginal length at 6-month follow-up in sexually active patients was significantly longer as compared with the patients who were not sexually active after surgery (8.4 ± 1.04 cm vs. 6.6 ± 2.4 cm). Mean Female Sexual Function Index score was 30.8 ± 2.1. Vaginal biopsy showed complete epithelialization of vaginal mucosa.Conclusion(s): In a developing nation like India, McIndoe's method with amnion graft seems to be a promising option owing to its low cost, easy availability, and safety, ease of the procedure not requiring any special instrument, physiologic outcome with respect to epithelialization of the vagina without hair growth, and satisfying functional outcome. [ABSTRACT FROM AUTHOR]

Study Objective To assess the experience of dilator use for neovagina creation in women diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and identify barriers affecting patient compliance with dilator use. Design and Setting This was a qualitative study using a structured questionnaire to investigate perception and identify barriers regarding vaginal dilator use. A questionnaire was administered after participants viewed a 2-minute patient educational video to additionally examine the usefulness of a patient education video tool as an adjunct to counseling in clinic on vaginal dilator use. Participants, Interventions, and Main Outcome Measures We enrolled 13 adolescent girls and women diagnosed with MRKH, aged 14-48 years, recruited from clinic and during a conference geared toward women affected by MRKH. Results The mean age of participants was 26 (±11.4) years with most diagnosed between the ages of 12 and 18 years. Of all participants, 69% (9/13) reported ever being sexually active with a mean age of coitarche of 16 (±2.6) years. Seventy-seven percent (10/13) reported current or past use of vaginal dilators, and most had some previous education on dilator use. Only 15% (2/13) reported no previous exposure to an educational tool. After viewing the 2-minute educational video, all participants rated it very helpful using a Likert scale (strongly agree to strongly disagree). Major themes that emerged as perceived barriers to dilator use included viewing dilation as a negative experience, uncertainty about success, and lack of motivation. Conclusion Education is an integral part of improving compliance with vaginal dilator use among adolescent girls and women affected by MRKH. Technology can be used to reinforce face-to-face counseling in the clinic. To our knowledge, this is the first study to specifically investigate patient experience with dilator use and opinion regarding the use of video technology to demonstrate self-directed neovagina creation in an MRKH population. The barriers identified in this study provide new insights to inform future research and clinical management of dilator use. [ABSTRACT FROM AUTHOR]

Background The association of rectovestibular fistula (RVF) and vaginal agenesis (VA) presents a diagnostic and management challenge. The vaginal replacement is usually performed with rectum or sigmoid, which are the natural fecal reservoirs; thus, the fecal control could be affected. We present our experience utilizing ileum to preserve the rectum and sigmoid. Methods We performed a retrospective study of eight patients with RVF and VA treated from May 2011 to June 2015 at two colorectal centers, at Pittsburgh and Mexico. We recorded the age at diagnosis of VA, treatment, presence of other associated malformations and outcome. Results Eight of forty-nine girls with RVF had an associated VA (16.3%). Three patients had a timely diagnosis and five a delayed diagnosis. Six patients were submitted to a vaginal replacement with ileum and achieved fecal control. Two are waiting for surgery. Conclusions A high index of suspicion of vaginal agenesis helps in a timely diagnosis in girls with RVF. The use of ileum allows for preservation of the fecal reservoirs, thus optimizing the chance for fecal control in patients with anorectal malformations. [ABSTRACT FROM AUTHOR]

Objective: To describe a McIndoe procedure technique for surgical management of Mayer-Rokitansky-Kuster-Hauser syndrome with the use of Nile tilapia skin as a scaffold for the proliferation of new vaginal epithelium.Design: Surgical video article. Local Institutional Review Board approval and written permission from the patient were obtained. There were no conflicts of interest.Setting: University hospital.Patient(s): A 17-year-old woman who presented at our gynecology department with the complaint of primary amenorrhea. At physical examination, she had a phenotypically normal vulva with no vaginal canal. Magnetic resonance imaging of the abdomen and pelvis revealed normal ovaries and absence of uterus and vaginal canal. No other congenital malformations were found. Karyotype was 46,XX.Intervention(s): The McIndoe procedure involved only a vaginal approach. Labia minora were separated, and a transverse midline incision of 3 cm was made. The vesicorectal space was progressively dissected. Blunt dissection was performed initially with digital separation of tissues. The neovagina was then inspected with the introduction of a vaginal speculum, allowing for review of hemostasis. Blunt dissection was continued with the aid of the speculum, to reach the appropriate vaginal dimensions. Subsequently, a vaginal acrylic mold covered with two pieces of processed and sterilized tilapia fish skin was inserted and accommodated into the newly created cavity. The external side of the tilapia skin, which maintained its grayish coloration after the removal of the scales, stayed in contact with the acrylic mold, while the white internal side of the tilapia skin, which was previously attached to the fish's muscle, stayed in contact with the walls of the neocavity. The mold was held in position by four multifilament polyglactin 1.0 sutures in the labia majora, thus preventing expulsion.Main Outcome Measure(s): Anatomic data, such as measurement of the final canal length, and histomorphologic analysis, 180 days after surgery.Result(s): The patient remained on bed rest for 9 days, after which the tilapia fish skin had been partially reabsorbed. After this time, the acrylic mold was removed. A larger plastic mold was then inserted and the patient was advised to wear it day and night for the first postoperative month. The vaginal mold had to be worn each night until normal sexual intercourse was possible. The final canal length 180 days after surgery was between 8 and 9 cm. For the histopathologic analysis, fragments of the lateral vaginal wall were removed 180 days after surgery and showed the presence of stratified squamous epithelium with five cell layers, ectasic blood vessels, and occasional desquamated epithelial cells.Conclusion(s): The procedure described offered this patient an anatomic and functional neovagina by means of a simple, safe, easy, effective, quick, and minimally invasive procedure. Limitations include the experimental nature of this study, based on a single case report with no long-term outcome results. The tilapia fish skin is a low-cost and widely available biomaterial. [ABSTRACT FROM AUTHOR]

Neovagina creation is essential for patients with the Mayer-Rokitansky-Kuster-Hauser syndrome. We compared a technique involved the pushing down of the peritoneum with the technique of separating the peritoneum for laparoscopy-assisted peritoneal vaginoplasty. We collected patients with congenital absence of vagina who underwent laparoscopy-assisted peritoneal vaginoplasty of the First Affiliated Hospital of Zhengzhou University between January 2011 and May 2013. The 2 surgical groups (pushing group and separating group) were compared for various parameters. The values of the following parameters were significantly lower for the pushing group compared with the separating group: mean operating time (78 ± 13 minutes vs 135 ± 28 minutes), mean duration of hospitalization (12.9 ± 2.7 days vs 18.0 ± 3.8 days), mean cost of hospitalization (14 016 ± 1640 RMB vs 18 783 ± 2143 RMB), requirement for a drainage tube (4% vs 27%; χ(2) = 8.864), requirement for analgesic drugs (20% vs 40%; χ(2) = 3.977), and postoperative rehospitalization (3.3% vs 10.0% at 2 months and 6.7% vs 26.7% at 6 months; χ(2) = 4.268 and 5.196). Mean values for blood loss (57 ± 19 mL vs 66 ± 20 mL), time to pass gas (21 ± 4 hours vs 23 ± 7 hours), and length of the reconstructed vagina (9.0 ± 0.4 cm vs 8.9 ± 0.5 cm) were not significantly different between the 2 groups. In addition, mean postoperative Female Sexual Function Index score did not differ significantly between the 2 groups or among the 2 groups and a control group (27.0 ± 4.8 vs 26.7 ± 5.2 vs 27.9 ± 4.5; p > .05). The technique involving pushing down of the peritoneum offers advantages of reduced cost, complications, hospitalization, operative time, and pain over the traditional technique. Sexuality approaches so-called "normal" sexuality. [ABSTRACT FROM AUTHOR]

Study Objective To examine providers' experiences with vaginal dilator training for patients with vaginal agenesis. Design and Setting Anonymous electronic survey. Participants Members of the North American Society for Pediatric and Adolescent Gynecology. Interventions and Main Outcome Measures How providers learn about vaginal dilator training, common techniques, and methods used for patient training, assessment of patient readiness, common patient complaints, issues leading to early discontinuation. Results There were a total of 55 completed survey responses of which 31 respondents (56%) had been in practice for more than 10 years. Forty-nine were gynecologists (89%), 20 had completed a fellowship in pediatric and adolescent gynecology (36%), and 6 were reproductive endocrinologists (11%). Thirty-one respondents had first learned about vaginal dilator training through lectures (56%) whereas only 9 through mentorship and fellowship (16%). According to respondents, the most common issue leading to early discontinuation was lack of patient motivation and readiness (n = 42; 76%). The most common complication was pain or discomfort (n = 45; 82%). More than half of respondents determined dilator therapy was successful when patients reported comfortable sexual intercourse (n = 30; 55%) and 65% (n = 35) did not delineate any restrictions to initiation of sexual intercourse. Most respondents (87%) requested further vaginal dilator training at either a clinical meeting (n = 26; 47%) or with a training video (n = 22; 40%). Conclusion Our study in an experienced cohort of pediatric gynecology providers highlights the need for further research and training on vaginal dilation education. [ABSTRACT FROM AUTHOR]

Objective To compare two methods of neovagina construction, the Frank and McIndoe techniques, in terms of structural and biological aspects. Study design A total of 55 subjects were included in this retrospective study: 43 underwent the Frank technique (FT) and 12 underwent the McIndoe technique (MT). A clinical evaluation and a comparison of the structural (color, shine, presence of hair, and histology) and biological (bacteriological, pH, and hormonal determinations) features were performed. Statistical analysis was performed using the Fisher and Mann–Whitney tests. Results The time to achieve a functional neovagina using the FT was longer than when using the MT (9.8 ± 5.3 versus 5.8 ± 2.9 months) ( p = 0.01). The neovaginal wall of the MT skin grafts was more rigid and drier, and it did not exhibit a shine in the way that the FT skin grafts did. The lining of the cavity formed by the FT in all subjects was similar to that of vaginal mucosa, whereas the lining formed by the MT persisted as a skin graft in 83.3% of the cases. The pH was lower for the FT ( p < 0.01), and Döderlein bacilli were present in 90% of the FT neovaginas but absent from the MT neovaginas. In the latter, flora with anaerobic bacteria was present. Hormonal cytology showed estrogen activity in 100% of the FT neovaginas, but there was no such activity in the MT neovaginas. Conclusions Our data suggest that the FT may be clinically, structurally, and biologically superior to the MT for the creation of neovaginas and is also less costly. [ABSTRACT FROM AUTHOR]

Study Objective To present the procedure and the results of a technique in which in vitro autologous cell cultures were used for the canal lining in patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) subjected to vaginoplasty with a modified Abbè-McIndoe technique. MRKHS is a rare anomaly characterized by vaginal agenesis with variable müllerian duct abnormalities. The Abbè-McIndoe procedure is 1 of the most frequent surgical treatments adopted in these women. In the last decades, several modifications have been introduced by different authors, mostly changing the lining material, but no consensus has been reached on what material should be used for the neovagina canal wall lining. Design A pilot study (Canadian Task Force classification II-1). Setting Policlinico Umberto I, “Sapienza” University of Rome. Patients A consecutive series of 23 women with MRKHS underwent neovaginoplasty with autologous vaginal tissue as the graft material between 2006 and 2013. Interventions Each patient with MRKHS was subjected to a full-thickness mucosal biopsy from the vaginal vestibule. After enzymatic dissociation, cells were inoculated onto collagen IV–coated plates and cultured for 2 to 3 weeks. The patients were subjected to vaginoplasty with a modified Abbè-McIndoe technique with autologous in vitro cultured vaginal tissue. Patients underwent clinical follow-up visits at 1, 3, 6, and 12 months after surgery and every year thereafter. Anatomic, functional, and sexual results were assessed. Measurements and Main Results In all cases, the vagina appeared normal in length and depth. A vaginal cytology and a vaginal biopsy obtained at the 3-month follow-up visit revealed physiological vaginal tissue. All 23 patients completed the Female Sexual Function Index questionnaire at 12 months after surgery. The results showed a total score of 27.2. These results indicate a satisfactory quality of sexual life. Conclusion The modified Abbè-McIndoe technique with autologous vaginal tissue appears to be safe and feasible. This technique allows normal and satisfying sexual intercourse. Larger series with longer follow-ups will be necessary to confirm if this technique represents the ideal procedure for vaginal agenesis. [ABSTRACT FROM AUTHOR]

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital defect of the Müllerian ducts characterized by uterovaginal agenesis and underdeveloped female genital organs. This paper is a tribute to the contributors of this condition — August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. In addition to their contributions, we have discussed findings and reports of similar defects from other important scientists (Hippocrates, Albucasis, etc.) dating as far back as 460 B.C. We have also discussed the disease types and different classification systems including VCUAM and AFS/ASRM among others. Even with several surgical and non-surgical treatment options, there are still many questions that remain unanswered and very little is known about the etiology or genetic predisposition of this condition. [ABSTRACT FROM AUTHOR]

Résumé Objectifs Cette étude s’est intéressée à l’activité sexuelle et à la qualité de vie des patientes atteintes d’un syndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH). Patientes et méthodes L’étude est fondée sur une série de patientes hospitalisées au CMCO pour un traitement du syndrome de MRKH entre 1997 et 2010. Nous avons relevé les informations concernant la pathologie, le traitement et le soutien psychologique proposé dans les rapports d’hospitalisation des patientes incluses. Elles ont également répondu à un questionnaire concernant la qualité des explications reçues au sujet du traitement, les différents soutiens proposés et souhaités, leur vie de couple et la communication autour de leur pathologie. Résultats Au total, 11 rapports d’hospitalisation ont été étudiés. Les patientes étaient âgées de 21 ans en moyenne au moment de la prise en charge. Trois d’entre elles présentaient des anomalies associées. Différents types de traitements étaient représentés (méthode de Frank, méthode de Vecchietti, plastie sigmoïdienne, clivage avec greffe de peau selon McIndoe). Les rapports sexuels étaient jugés satisfaisants par 4 patientes. Il y avait une bonne acceptabilité de la pathologie par le partenaire dans 8 cas. Seuls quatre rapports médicaux sur onze mentionnaient la proposition d’un soutien psychologique. Sur les onze patientes, neuf ont accepté de répondre au questionnaire. Discussion et conclusion L’analyse de la littérature et de nos propres résultats indique que les patientes présentant un syndrome de MRKH ont un besoin crucial de support psychologique. Elles sont capables d’avoir des rapports sexuels en termes d’excitation, de désir et de lubrification identiques aux femmes non atteintes, surtout après traitement. Néanmoins, le principal problème reste l’impossibilité d’avoir des enfants, problème auquel les recherches menées sur les greffes d’utérus et l’évolution des lois sur la gestation pour autrui pourront peut-être amener une solution. Objectives This study evaluated the sexual activity and the quality of life in patients with a Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Patients and methods The study is based on a series of patients hospitalized for the treatment of MRKH syndrome in CMCO between 1997 and 2010. Through the medical reports, we recovered information about the pathology, the treatment given and the psychological support proposed to or wished by the patients. The patients also had to answer a questionnary concerning the quality of the informations they received about the treatment, the different types of supports proposed and wanted, their life as a couple and how they communicated about their disease. Results Eleven medical reports have been reviewed. The patients were aged 21 in average at the moment of the treatment. Three patients had some associated malformations. Different methods of treatment were represented (Frank's method, Vecchietti's technique, sigmoid vaginoplasty, McIndoe's technique). Sexual intercourse was assessed as satisfactory by 4 patients. In 8 cases, the partner accepted well the pathology. Only 4 out of the eleven medical reports mentioned a psychological support. Nine out of the eleven patients accepted to answer the questionnary. Discussion and conclusion The review of the literature and our own results show that the patients with MRKH syndrome have a real need for psychological support. They are able to have sexual intercourse that is satisfactory in the domains of excitation, lubrification and desire, especially after treatment. The main problem is the inability to bear children, a problem which might by solved by the future researches about uterus graft and the evolution of the laws concerning gestational surrogacy. [ABSTRACT FROM AUTHOR]

Vaginal agenesis is a rare congenital disorder of female genital tract. Vaginal reconstruction using bowel segment is usually offered last when dilatation and/or prior vaginal reconstruction attempts using graft or flap has failed. Traditionally accomplished using open surgical approach, we describe here our initial experience of robotic-assisted ileo-vaginoplasty. The index patient presents to us with inadequate vaginal depth after failed buccal mucosal graft vaginoplasty. With the patient in low lithotomy position, port placement and docking of the robot was done. Isolation of ileal segment, closure at its proximal end and end-to-end bowel anastomosis was accomplished successfully. However, in view of dense adhesions the subsequent pull-down of the ileal segment into the perineum could not be done safely. The procedure was completed using combined abdomino-perineal open approach. A vaginal stent (in the ileal segment) and a catheter (in the introitus) were placed post-operatively. Post-operative recovery was uneventful. At 2-weeks, 3 months and a subsequent 1 year follow-up Cystoscopy and examination under anesthesia revealed an adequate vaginal depth with patient reporting successful vaginal dilatation. Robotic reconstruction of vagina using bowel segment in select patient, is safe and feasible, but possible with formidable surgical experience. [ABSTRACT FROM AUTHOR]

Objectives The use of bowel for vaginal construction is a well-established procedure. In this paper, the lessons learned from 36 vaginoplasties over a 34-year period are discussed. Methods Between 1980 and 2013, 36 patients between 1 and 21 years of age underwent vaginal construction. In 27 of the 36 patients, an inverted V-shaped perineal skin flap was incorporated into the posterior wall of the neovagina, and, when required, a detubularized pouch was used to avoid traction on the vascular pedicle. In nine patients, the sigmoid colon was anastomosed, in a circumferential manner, to the short blind-ending vaginal dimple. Results Two of the nine sigmoid vaginas, where the perineal skin flap was omitted, developed introital stenosis. None of the sigmoid neovaginas that included the perineal flap developed stenosis. One patient with ileal segment vagina, at the onset of puberty, developed introital stenosis after 10 years; this was successfully corrected. Nineteen out of 28 patients available for long-term follow up were sexually active and reported no dyspareunia. Conclusions Detubularization and reconfiguration to form a pouch reduces the traction on the mesentery of the bowel segment, which ensures adequate blood supply to the distal entero-cutaneous junction. The inverted V-shaped perineal skin flap should be incorporated in the anastomosis to avoid circumferential suture line and introital stenosis. [ABSTRACT FROM AUTHOR]

Abstract: The laparoscopic Davydov procedure is a surgical technique for creation of a neovagina in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or vaginal agenesis. Herein we report its use in creating a neovagina after failure of a previous surgical attempt in a patient with a pelvic kidney, which has not been described to date. The patient, a 28-year-old woman with MRKH in whom creation of a neovagina using bilateral gracilis flaps had been attempted, was unable to have intercourse because of a shortened and scarred vagina. We successfully used the laparoscopic Davydov procedure to create a functional neovagina despite the previous surgery and the presence of a pelvic kidney. The Davydov procedure is an option for use in patients with MRKH with history of unsuccessful neovaginal surgery and can be performed in the presence of a pelvic kidney. [Copyright &y& Elsevier]

Abstract: Rokitansky syndrome and complete androgen insensitivity syndrome are the most common causes of vaginal agenesis. Treatment should be deferred until adolescence to allow informed consent and compliance. The best treatment for vaginal agenesis remains controversial although vaginal dilation therapy is still widely considered the first line treatment because success rates are high and associated risks are low. A variety of surgical options are also available, each with enthusiastic proponents. Long-term outcome studies on most surgical techniques, however, are still lacking and until recently most studies have reported on success rate in terms of anatomical success only, without including sexual function. Moreover, the medical literature lacks prospective comparative outcome studies, meaning that current choice of surgical procedure relies greatly on the surgeon’s preference and experience. [Copyright &y& Elsevier]

Abstract: Objective: To present and evaluate the histological, anatomical and functional results of the McIndoe procedure, as modified by the application of oxidized cellulose (Surgicel™) in women with vaginal agenesis. Study design: Eleven patients with vaginal agenesis underwent vaginoplasty using a mould that had been wrapped with oxidized cellulose. The surgeries were performed between January 2009 and January 2010. Eight of the patients had been diagnosed with Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, and the remaining three had been diagnosed with cervicovaginal agenesis (CVA). The mean follow-up time was 14 months (range, 6–24 months), and it included clinical examinations and evaluation of the Female Sexual Function Index (FSFI). Neovaginal biopsies were taken at the time of surgery and 1–12 months after surgery. The histology of the samples was evaluated to determine squamous epithelialization of the neovaginal tissue over time, and the total collagen content of the neovaginas were compared with normal control subjects. For statistical analysis we employed the ANOVA test and the t-test. Results: At 6 months, anatomical success was achieved in 100% of the MRKH syndrome patients (neovaginal length≥6cm), and functional success was achieved in 100% of the patients who started their sexual life (FSFI score≥30). Biopsy results showed complete epithelialization of the neovagina after 5 months in all samples, and the collagen content was comparable to that of a normal vagina. One major postoperative complication occurred in a patient with CVA, which culminated in death. The uterovaginal canalization procedure was unsuccessful at creating an outflow tract for regular menses in all cases. Conclusions: The procedure described here offers patients a functional vagina by means of a simple and low-cost procedure that elicits squamous epithelialization of the neovaginal vault, with total collagen content similar to that of normal vaginal tissue. It is a potential alternative therapeutic approach for MRKH syndrome but not applicable to cases of CVA. [Copyright &y& Elsevier]

Objective: To investigate the functional and sexual outcome of sigmoid vaginoplasty in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Design: Prospective study. Setting: University hospital. Patient(s): Fifty-nine consecutive patients with MRKH syndrome. Intervention(s): Forty-eight patients underwent sigmoid vaginoplasty, and 11 were treated using the Frank method of dilatation. Main Outcome Measure(s): Functional results and sexuality were evaluated with the use of two standardized questionnaires: the Female Sexual Function Index (FSFI) and the revised Female Sexual Distress Scale (FSDS-R). Questions were added to analyze depression, body image perception, and desire of motherhood. Result(s): Out of the 68% of patients who answered the questionnaire, 73% had regular sexual intercourse. The mean total FSFI score was 28 ± 3.1 in the operated group and 30 ± 5.3 in the group treated with the Frank method. Their mean FSDS-R scores were 21 ± 12.1 and 18 ± 13.8, respectively. Conclusion(s): Sigmoid vaginoplasty is an effective technique providing a nearly normal sexual function to patients with vaginal aplasia. Despite this, psychologic distress related to sexuality persists in most patients, demonstrating the need for a multidisciplinary support. [ABSTRACT FROM AUTHOR]

Abstract: Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. The MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe 7 girls with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the literature. Methods: Seven patients with vaginal agenesis or distal vaginal atresia and anorectal malformation were operated on at 3 pediatric surgical centers in Madrid, Helsinki, and Stockholm. Case records were reviewed, and the previous literature was searched. Results: Six patients had a reconstruction of the anorectum and vagina during the first year of life. In one case, the vagina was replaced at the time of a redo posterior sagittal anorectoplasty at the age of 11 years. The 4 patients with vaginal agenesis had a sigmoid colovaginoplasty. The 3 patients with a distal vaginal atresia had a vaginal pull-through. Four of the patients needed laxatives or enemas for mild constipation at last follow-up. Short-term gynecologic problems were minor in all patients. Conclusion: Vaginal reconstruction at the time of anorectoplasty results in good short-term outcome. For vaginal agenesis, a primary colovaginoplasty is suggested to be the preferred technique to replace the vagina. [Copyright &y& Elsevier]

Abstract: Objective: To evaluate the use of two skin flaps of the lower abdominal wall in the creation of a cylindrical conduit in vaginal reconstruction surgery in rabbits, through macroscopic and histological analysis. Study design: An experimental study was performed in 16 female New Zealand rabbits, consisting of the use of two rectangular-shaped skin flaps of the lower abdominal wall measuring 1cm longitudinally and 3cm transversely anastomosed to each other through continuous suture of the edges of the two flaps to create a tube. Hysterectomy and excision of the vaginal vault were performed, and the skin tube was anastomosed to the remaining vaginal stump with separate points of polyglycolic acid 4.0. Animals were divided into 4 groups according to the euthanasia at 2, 4, 8 and 12 weeks, when after excision of the neovagina, macroscopic and histological evaluation with hematoxylin–eosin and Masson trichrome were performed. Results: Of 16 operated rabbits, only 1 presented partial abdominal wall dehiscence, not compromising the flap viability. The macroscopic analysis of the vaginal conduit showed that it was kept open throughout the experimental steps, with a good patency and gauge, showing a slight retraction in the skin conduit length of no statistical significance. In the histopathological analysis, a local inflammatory process in the anastomosis was observed, which was larger in the early evaluation but decreased in late evaluations, as well as the local fibrosis process. Integration of the vaginal and skin epithelia was made with no alterations in their primary characteristics. Conclusion: The use of two skin flaps of the lower abdominal wall as a vaginal conduit presented good integration between skin and vaginal tissue with minimal length retraction, kept the patency during evaluations and did not show strictures, presenting good local healing and a low rate of complications. [Copyright &y& Elsevier]

Abstract: Study Objectives: Review anomalies in patients with vaginal agenesis. In particular, to clarify the impact of an absent hymen on the presence of other anomalies; on the success of creating a vagina with dilators; and on sexual function outcomes. Design: Retrospective medical record review; questionnaire on sexual function. Setting: Gynecology service at a children’s hospital and the practice of 1 gynecologist. Participants: All patients with vaginal agenesis were identified from the databases, as well as the subgroup in which hymenal status was known. Outcome Measures: Data regarding hymen, renal, skeletal, cardiac, and other anomalies; for women who had a neovagina, the technique used to create a functional vagina. Results: Of 69 females (age range 2–70 years), renal tract anomalies (43.3%), vertebral anomalies (29%), cardiac anomalies (14.5%), and syndromes including Klippel-Feil (7%) and MURCS association (7%) were identified. Where hymenal status was known (n = 47), 31 were normal, and 16 had an absent hymen. Where the hymen was absent, renal agenesis was increased (odds ratio = 13.5, P < .001). There was no association between other anomalies and an absent hymen, or between the various anomalies. For women without a hymen, the likelihood of failing dilation therapy was increased (odds ratio = 21.7; P < .01]. Conclusion: An absent hymen makes renal agenesis more likely and increases the likelihood that dilator techniques will fail. This condition appears to be associated with reports of long-term problems with poor lubrication that are potentially related to the absence of the peri-hymenal Bartholin’s glands. [Copyright &y& Elsevier]