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Background: Gonadal dysgenesis, a genetic condition characterized by incomplete of defective formation of the gonads, can present with vaginal agenesis in individuals with 46, XY karyotype., Case: We report an innovative intervention in the management of vaginal agenesis in a 19-year-old female with gonadal dysgenesis. Despite initial attempts with vaginal dilators, the patient presented unresponsive, leading to the adoption of a neovaginoplasty using Nile Tilapia Fish Skin (NTFS) as graft. The procedure, based on the McIndoe technique, involved the creation of a 10 cm x 3 cm vaginal canal with an NTFS-wrapped acrylic mold without complications., Conclusion: The use of NTFS as a graft for neovaginoplasty in gonadal dysgenesis, a novel approach not previously reported in medical literature for this diagnosis, demonstrated favorable outcomes in terms of functionality and patient well-being., Competing Interests: Conflict of interest We declare for all due purposes that there are no conflicts of interest in the conduct and dissemination of this research., (Copyright © 2024. Published by Elsevier Inc.)

Study Objective: 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., Methods: 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., Results: 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., Conclusion: 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., Competing Interests: Conflict of Interest All authors declare no potential conflicts to disclose, (Copyright © 2024. Published by Elsevier Inc.)

Study Objective: 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., Methods: 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., Results: 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., Conclusion: 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., Competing Interests: Conflicts of interest RUG, CP, and IW have no potential conflicts to disclose. SRG is a consultant obstetrician and gynecologist and pain medicine specialist at The Royal Children's Hospital, Melbourne. ND is a consultant obstetrician and gynecologist at Cairns Hospital., (Crown Copyright © 2024. Published by Elsevier Inc. All rights reserved.)

Objective: To analyze the features of the epithelia coating neovaginas after vaginoplasty in women affected by Mayer-Rokitansky-Küster-Hauser syndrome STUDY DESIGN: 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)., Results: 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., Conclusion: 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., Competing Interests: Conflicts of Interest None, (Copyright © 2024. Published by Elsevier Inc.)

Background: 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., Index Case and Case Series: 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., Conclusion: 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., Competing Interests: Conflicts of Interest All authors confirm no proprietary or commercial interest in any product mentioned or concept discussed in this article and have no potential conflicts to disclose., (Copyright © 2023. Published by Elsevier Inc.)

Study Objective: To understand variations and experiences of vaginal lengthening internationally in individuals with congenital underdevelopment of the uterus, cervix, and upper vagina or Müllerian agenesis METHODS: 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., Results: 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., Conclusion: 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., Competing Interests: Declaration of Competing Interest Author 3 is the CEO of the national MRKH foundation. Author 6 became chair of the Scientific Advisory Board of the national MRKH foundation after the completion of this study. The remaining authors report no conflicts of interest., (Copyright © 2023. Published by Elsevier Inc.)

Study Objective: 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., Design: Review of the existing literature METHODS: PUBMED search with key words vaginal agenesis, neovaginal creation, vaginoplasty, vaginal stretching, vaginal augmentation, vaginal stenosis, outcomes of vaginoplasty, Mullerian anomalies, vaginal anomalies RESULTS: The need to perform vaginal stretching, replacement, or augmentation will vary depending on the underlying reproductive tract condition., Conclusions: 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., Competing Interests: Conflict of Interest Statement I have no conflicts of interest relevant to this manuscript. I received no funding for this work., (Copyright © 2021. Published by Elsevier Inc.)

Study Objective: 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., Design: Cross-sectional., Setting: Participants were recruited globally online and from patient meetings., Participants: A total of 263 patients with MRKH (age 16.1-74.4 years; mean = 31.7 years) completed questionnaires., Intervention: None., Main Outcome Measures: 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., Results: 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., Conclusions: 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., (Copyright © 2020 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Study Objective: To summarize the self-reported sexual experiences of women with vaginal agenesis before treatment and discuss the clinical implications., Design: A retrospective review of pretreatment baseline sexuality data and medical records of women with vaginal agenesis seeking vaginal construction., Setting: A specialist multidisciplinary center for women with genital differences associated with diverse sex development., Participants: 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)., Interventions: Gynecological examination and completion of questionnaires., Main Outcome Measures: (1) Sexual Experiences Questionnaire; (2) Multidimensional Sexuality Questionnaire; (3) Vaginal Self-Perceptions; and (4) vaginal length., Results: 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., Conclusion: 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., (Copyright © 2018 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2018 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Background: Although preparation of a potential vaginal space between the bladder and rectum is a pivotal step in various vaginal reconstructions for patients with vaginal agenesis, few papers have mentioned the importance of this procedure., Case: We report the successful creation of a neovagina in 3 Japanese patients with Mayer-Rokitansky-Küster-Hauser syndrome using a novel modified McIndoe procedure that involved separation between the bladder and the rudimentary uterus in a laparoscopically assisted manner., Summary and Conclusion: Opening "the anterior vaginal vault" between the bladder and uterus is a novel concept of vaginal reconstruction; this approach has not been described hitherto in the literature. Based on the outcome of our cases, we conclude that this procedure is advantageous in creating a large and soft neovagina., (Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Background: Vaginal agenesis is rare and generally presents with primary amenorrhea and cyclic abdominal pain. We describe a case in which the diagnosis was delayed due to lack of initial pelvic examination and atypical findings on imaging., Case: A 13-year-old girl with a known renal anomaly presented to the emergency department with primary amenorrhea and cyclic abdominal pain. She declined a pelvic examination and had normal laboratory testing and pelvic magnetic resonance imaging results. At 16 months later, she presented again and was diagnosed with vaginal agenesis and a large endometrioma., Summary and Conclusion: This case illustrates the importance of the physical examination in the evaluation of primary amenorrhea. Further, it demonstrates that hematometra may not be present on imaging. Here, an endometrioma was the only abnormality noted on magnetic resonance imaging after 18 months of retrograde menstruation., (Published by Elsevier Inc.)