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Müllerian anomalies are congenital conditions characterized by the incomplete development of the female reproductive tract. Women affected by Müllerian anomalies often display additional malformations of the renal, skeletal, and cardiovascular system, and are at a higher risk for infertility and adverse pregnancy outcomes. Several Müllerian anomalies have been reported in association with endometriosis, but it is unclear if all classes or anatomical variations are associated with the disease. Most importantly, both Müllerian anomalies and endometriosis can manifest with a wide degree of variability, adding further complexity to their poorly defined relationship. Retrograde menstruation occurring in obstructive Müllerian anomalies is a well-accepted mechanism for the development of endometriosis. However, endometriosis can occur following surgical correction of the anomaly or in the absence of obstruction. This suggests that other mechanisms may be involved, although the specific pathogenesis remains elusive. This review provides a comprehensive summary of the current state of clinical research on endometriosis in Müllerian anomalies. This review also highlights research and knowledge gaps, informing the development of future experimental designs to address current limitations including heterogeneity of phenotypes, variable comorbidities, and lack of genetic information. [ABSTRACT FROM AUTHOR]

Objective: We aimed to determine frequency, clinical presentation, etiology and management in patients presenting with primary amenorrhea in tertiary care setting. Method: This was a case series conducted in outpatient Department of Gynecology and Obstetrics unit II, Dr. Ruth K. M. Pfau Civil Hospital Karachi from 1st July 2019 to 30th June 2022. A total of 20,102 patients attended Gynaecology outpatient department in these three years. We included 41 cases with primary amenorrhea. Information collected on a specially designed proforma included history, physical examination, hormonal workup, ultrasound, radiological investigations and karyotyping results. Data was entered and analyzed by SPSS version 26.0. Results: The frequency of PA was 41(0.2%). The mean age was 17.93± 4.27 years (range13-37). Majority 38(92.6%) were unmarried, educated till secondary 24(58.5%), of normal height 28(68.2%) and normal BMI 30(73%). Main associated complaint was cyclical lower abdominal pain 8(22%). Most common cause found was Mullerian dysgenesis 17(41.46%). Others were chromosomal disorder 10(24.39%), imperforate hymen 6(14.63%), constitutional delay 5(12.19%), transverse vaginal septum 2(4.87%) and congenital adrenal hyperplasia 1(2.43%). The chromosomal analysis revealed 46XX in 31(75.6%), 45XO/45XO Mosaic in 6(14.63%) and 46XY in 4(9.75%) patients. Surgical correction was possible in 14(41.66%) patients, hormone replacement therapy (HRT) was given in 10(22.2%) and rest treated with placebo. Conclusion: Primary amenorrhea is a significant problem in adolescent girls. We found Mayer Rokitansky-Kuster-Hauser syndrome (MRKH) syndrome as the commonest cause in our series. There is need to promptly identify the patients who need medical, surgical or psychological management. It is also required to make local strategies and guidelines for evaluation, management and long term follow up. [ABSTRACT FROM AUTHOR]

Background Aim Materials and methods Results Conclusion Vaginal aplasia or hypoplasia often requires the creation of a neovagina using vaginal dilation therapy, vaginoplasty surgery, or a combination of both. However, the absence of validated guidelines and the controversy surrounding vaginoplasty surgery have limited our understanding of the long‐term outcomes and impact on quality of life and psychosexual functioning for women with a short or absent vagina. This study provides valuable insights into the Australian context, reflecting the treatment approaches and long‐term psychosocial outcomes for this patient group.This study aimed to assess the long‐term effects of vaginal dilation, with or without vaginoplasty surgery, on quality of life and psychosexual functioning in women diagnosed with a short or absent vagina.A mixed‐methods design was employed, utilising validated psychometric tools and a semi‐structured interview. The study included patients with disorders of sex development aged above 16 who underwent vaginal dilator therapy between 2012 and 2020, as well as healthy age‐matched controls. The research was conducted at a single tertiary hospital in Sydney, NSW, Australia.The questionnaire was completed by 30 participants, including 11 non‐surgical cases, four surgical cases, and 15 controls. The mean age at inclusion was 30.8 ± 14.1 years. The non‐surgical group exhibited significantly higher scores indicating a greater ‘need for help’ compared to the surgical group (30.0 ± 19.3 and 4.5 ± 9.0; P = 0.0121). No other statistically significant differences were observed between the two groups.Choice of treatment should consider various factors, including patient preference and responsiveness to treatment. These findings emphasise the importance of personalised care in the Australian context and highlight the need for further research, particularly with larger and more homogenous sample sizes, to enhance clinical decision‐making in this population. [ABSTRACT FROM AUTHOR]

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

Introduction Material and Methods Results Conclusions Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome with utero‐vaginal aplasia is the most severe form of the Müllerian duct anomalies and can be associated with extra‐genital abnormalities such as renal or skeletal anomalies, hearing loss, or cardiac defects. The past two decades have witnessed significant advances both in understanding the etiologies of MRKH and in the development of fertility treatments such as uterine transplantation. The present work aimed to determine the rate of women with MRKH syndrome who underwent optimal initial management (after comprehensive malformation assessment) and to establish the rate of patients eligible for uterine transplantation (i.e., those with a vaginal length ≥7 cm without reconstruction using a bowel segment, and an anti‐Müllerian hormone level >1.5 ng/mL before 35 years).Cohort study of 85 women with MRKH syndrome consulting in our tertiary center.62.4% of women with MRKH syndrome had an exhaustive malformative evaluation according to the French guidelines (Protocole National de Diagnostic et de Soin [PNDS]), of which 76.5% had associated malformations (MRKH type II). Pedigree, when available, showed a family history of infertility or a urogenital tract spectrum anomaly in 60% of cases. Concerning the uterine transplantation selection criteria, when evaluated, 22.6% of women had an anti‐Müllerian hormone level <1.5 ng/mL and 36% a vaginal length <7 cm. On the 21 women with complete evaluation of both primary and secondary outcomes, 14 of them would be eligible for a uterine transplantation program at the time of consultation according to the main inclusion criteria of uterine transplantation program.Women with MRKH syndrome are often inadequately explored for associated malformations. Early assessment and monitoring of the ovarian reserve is key for fertility preservation, especially in the era of uterine transplantation. [ABSTRACT FROM AUTHOR]

Reproductive health concerns like Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome are prevalent in today's society. MRKH syndrome is a condition that severely affects women's sexual life, fertility, and mental health and has a high prevalence of one out of 5000 female births. Vaginoplasty is the primary method to regain patients' reproductive health. However, conventional vaginoplasty faces various challenges, including complex and non‐customized treatment procedures causing intense pains and complications. To bring new advances to vaginoplasty, a 3D‐printed hydrogel scaffold is developed to provide satisfactory mechanical support and bioactivity for accelerating defect repair after surgery. The hydrogel scaffold consisting of gelatin methacryloyl (gelMA) and carrageenan (Car) is custom 3D‐printed using an ambient temperature printing system. Furthermore, the scaffold undergoes dual‐crosslinking through chemical crosslinking of gelMA and ionic crosslinking of Car with magnesium ions (Mg2+). This dual‐crosslinking strategy substantially improves the overall mechanical properties of the scaffold and introduces bioactive Mg2+. The sustained release of Mg2+ plus the extracts from the dual‐crosslinked scaffold significantly promotes cell proliferation, migration and angiogenesis. In a preclinical rat model with penetrating genital tract defects mimicking vaginoplasty, the implantation of dual‐crosslinked scaffold repairs the penetrating wounds to near‐normal levels within one week, showing potential as an alternative for better regaining reproductive health. [ABSTRACT FROM AUTHOR]

Introduction: Coexistence of Mayer-Rokitansky-Kuster-Hauster syndrome (MRKH) with other conditions is rare, especially when MRKH was found in a young woman presenting with ovarian malignancy. This case report wishes to highlight MRKH complicated with giant mucinous cystadenoma and bilateral inguinal hernia. Case report: A 22-year-old nulligravid woman was admitted with primary amenorrhea and abdominal mass. Abdominal examination revealed a cystic mass 25 × 25 × 20 cm in size and a vagina 1 cm in length. Pelvic magnetic resonance imaging (MRI) showed a giant multiloculated left ovarian mass amidst the absence of uterus. During the surgery, the giant multiloculated cystic mass was identified as mucinous cystadenoma on frozen section. Bilateral medial inguinal hernia was also identified. Discussion: MRKH coexisting with other disease is rare but considering other structures arising from paramesonephric duct (PMD) may exist, allows the possibility of other structural anomalies. Conclusions: The present report illustrates a rare case of MRKH syndrome with giant ovarian cystadenoma and inguinal hernia. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder of female reproductive development, resulting in vaginal aplasia and uterine hypoplasia. Patients with MRKH syndrome are at the risk of pelvic complications. Due to the low incidence and limited treatment experience, MRKH syndrome is prone to be misdiagnosed. A case of MRKH syndrome complicated with giant ovarian plasma papillary carcinoma was presented. The patient with MRKH syndrome usually has normal structure of ovary, that is why gynecologists should be more alerted to the risk of ovarian pathology. Preoperative MRI can improve the diagnostic sensitivity, and laparoscopic surgery can clarify the pelvis and reduce surgical injuries. In young patients with ovarian cancer, preservation of the healthy ovary can be considered to ensure endogenous hormones, while resection of the stumpy uterus can be recommended to reduce the risk of lesions. In this case, the liver function after operation was obviously abnormal, and noladex was finally given to inhibit the ovarian function in order to initiate chemotherapy at an elective stage. The chemotherapy regimen for ovarian cancer should be still applicable and the follow-up results be satisfactory in this case. This case report with literature review will increase the awareness and alertness of gynecologists to pelvic comorbidities in patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

Backgrounds: Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single‐gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population. Methods: We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant. Results: Our study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high‐density array‐based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples. Conclusions: The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to compare surgical and sexual outcomes after Davidov-Moore vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).In the case-series study, we described seven women, at a median age of 22.6 ± and BMI 22.8 ± 2.3 kg/m2. We measured peri- and postsurgical parameters, including surgery-related neovaginal length and sexual initiation time. Sexual outcomes were measured using the Female Sexual Function Index (FSFI) before and 6 months after vaginoplasty.All surgical procedures were performed successfully, with one minor perioperative bleeding. The mean time of vaginoplasty was 82.1 min and the mean duration of hospitalization was six days. After a 6-month follow-up, vaginal length was 8.1-times longer than before surgery (10 vs. 81 mm). The time from the surgery to the initiation of vaginal intercourse was between 17 to 22 weeks. The mean FSFI score indicated good results, with no women below 23 score, and was 4.3- times higher when compared with the pre-surgical one (6.7 vs 29.1). Contrary to the FSFI score before surgery, the post-surgical FSFI revealed higher scores in all six different domains: desire (2.5-times), arousal (4.1-times), lubrication (3.8-times), orgasm (3.4-times), satisfaction (3.3-times) and comfort (11-times).Laparoscopic Davydov-Moore vaginoplasty might be considered as a safe procedure with satisfactory anatomic and sexual outcomes. It should be considered as a treatment option for the creation of neovagina in women with MRKH.Methods: The aim of this study was to compare surgical and sexual outcomes after Davidov-Moore vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).In the case-series study, we described seven women, at a median age of 22.6 ± and BMI 22.8 ± 2.3 kg/m2. We measured peri- and postsurgical parameters, including surgery-related neovaginal length and sexual initiation time. Sexual outcomes were measured using the Female Sexual Function Index (FSFI) before and 6 months after vaginoplasty.All surgical procedures were performed successfully, with one minor perioperative bleeding. The mean time of vaginoplasty was 82.1 min and the mean duration of hospitalization was six days. After a 6-month follow-up, vaginal length was 8.1-times longer than before surgery (10 vs. 81 mm). The time from the surgery to the initiation of vaginal intercourse was between 17 to 22 weeks. The mean FSFI score indicated good results, with no women below 23 score, and was 4.3- times higher when compared with the pre-surgical one (6.7 vs 29.1). Contrary to the FSFI score before surgery, the post-surgical FSFI revealed higher scores in all six different domains: desire (2.5-times), arousal (4.1-times), lubrication (3.8-times), orgasm (3.4-times), satisfaction (3.3-times) and comfort (11-times).Laparoscopic Davydov-Moore vaginoplasty might be considered as a safe procedure with satisfactory anatomic and sexual outcomes. It should be considered as a treatment option for the creation of neovagina in women with MRKH.Results: The aim of this study was to compare surgical and sexual outcomes after Davidov-Moore vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).In the case-series study, we described seven women, at a median age of 22.6 ± and BMI 22.8 ± 2.3 kg/m2. We measured peri- and postsurgical parameters, including surgery-related neovaginal length and sexual initiation time. Sexual outcomes were measured using the Female Sexual Function Index (FSFI) before and 6 months after vaginoplasty.All surgical procedures were performed successfully, with one minor perioperative bleeding. The mean time of vaginoplasty was 82.1 min and the mean duration of hospitalization was six days. After a 6-month follow-up, vaginal length was 8.1-times longer than before surgery (10 vs. 81 mm). The time from the surgery to the initiation of vaginal intercourse was between 17 to 22 weeks. The mean FSFI score indicated good results, with no women below 23 score, and was 4.3- times higher when compared with the pre-surgical one (6.7 vs 29.1). Contrary to the FSFI score before surgery, the post-surgical FSFI revealed higher scores in all six different domains: desire (2.5-times), arousal (4.1-times), lubrication (3.8-times), orgasm (3.4-times), satisfaction (3.3-times) and comfort (11-times).Laparoscopic Davydov-Moore vaginoplasty might be considered as a safe procedure with satisfactory anatomic and sexual outcomes. It should be considered as a treatment option for the creation of neovagina in women with MRKH.Conclusion: The aim of this study was to compare surgical and sexual outcomes after Davidov-Moore vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).In the case-series study, we described seven women, at a median age of 22.6 ± and BMI 22.8 ± 2.3 kg/m2. We measured peri- and postsurgical parameters, including surgery-related neovaginal length and sexual initiation time. Sexual outcomes were measured using the Female Sexual Function Index (FSFI) before and 6 months after vaginoplasty.All surgical procedures were performed successfully, with one minor perioperative bleeding. The mean time of vaginoplasty was 82.1 min and the mean duration of hospitalization was six days. After a 6-month follow-up, vaginal length was 8.1-times longer than before surgery (10 vs. 81 mm). The time from the surgery to the initiation of vaginal intercourse was between 17 to 22 weeks. The mean FSFI score indicated good results, with no women below 23 score, and was 4.3- times higher when compared with the pre-surgical one (6.7 vs 29.1). Contrary to the FSFI score before surgery, the post-surgical FSFI revealed higher scores in all six different domains: desire (2.5-times), arousal (4.1-times), lubrication (3.8-times), orgasm (3.4-times), satisfaction (3.3-times) and comfort (11-times).Laparoscopic Davydov-Moore vaginoplasty might be considered as a safe procedure with satisfactory anatomic and sexual outcomes. It should be considered as a treatment option for the creation of neovagina in women with MRKH. [ABSTRACT FROM AUTHOR]

To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin or affected tissue could cause the phenotype, we identified a mosaic variant in ACTR3B with high allele frequency in the affected tissue, low allele frequency in the blood of the affected twin, and almost absent in blood of the unaffected twin. Focusing on MRKH candidate genes, we detected a pathogenic variant in GREB1L in one twin pair and their unaffected mother showing a reduced phenotypic penetrance. Furthermore, two variants of unknown clinical significance in PAX8 and WNT9B were identified. In addition, we conducted transcriptome analysis of affected tissue and observed perturbations largely similar to those in sporadic cases. These shared transcriptional changes were enriched for terms associated with estrogen and its receptors pointing at a role of estrogen in MRKH pathology. Our genome sequencing approach of blood and uterine tissue of discordant twins is the most extensive study performed on twins discordant for MRKH so far. As no clear pathogenic differences were detected, research to evaluate other regulatory layers are required to better understand the complex etiology of MRKH. [ABSTRACT FROM AUTHOR]

Introduction and hypothesis: To compare two laparoscopic vaginoplasties using a single peritoneal flap (SPF), namely the Hebei I technique and the Hebei II technique, for creation of a neovagina in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Methods: A comparative retrospective study was conducted at a university-based tertiary care hospital. From September 2008 to September 2019, 72 patients with MRKH syndrome underwent either the Hebei I technique (n = 49) or the Hebei II technique (n = 23). The perioperative results, complications and anatomical outcomes of two groups were recorded and compared. The functional results of patients who became sexually active were assessed through the Female Sexual Function Index (FSFI) questionnaire. Results: Two techniques achieved anatomical and functional success without intraoperative complications. There was no significant difference in perioperative results, anatomical findings and the FSFI scores between the two groups. Patients in the Hebei II group had a relatively shorter operative time than those in the Hebei I group (P = 0.064). What is more, compared with the Hebei I group, the Hebei II group had significantly fewer granulomatous polyps at the top of the neovagina (P = 0.029) and less mucous production of the neovagina (P = 0.025) during the first 3 months after surgery. Conclusions: Both the Hebei I and Hebei II techniques are feasible approaches for creating a neovagina which can bring satisfactory anatomical and sexual outcomes in patients with MRKH syndrome. However, the Hebei II technique may be a good alternative to the Hebei I technique because of its relatively shorter operative time, fewer neovaginal secretions and fewer granulomatous polyps. [ABSTRACT FROM AUTHOR]

Introduction: To compare the modified McIndoe versus Davydov vaginoplasty techniques in terms of anatomical results, sexual performance, and satisfaction. Methods: From September 2019 to June 2021, a comparative study was conducted on 20 patients with MRKH syndrome who underwent either McIndoe vaginoplasty (McIndoe group, 10 cases) or Davydov vaginoplasty (Davydov group, 10 cases) in a university-based tertiary care hospital (Imam Khomeini Hospital) in terms of anatomical results, sexual performance, and satisfaction. Functional results were assessed using the Female Sexual Function Index (FSFI). Results: All surgical procedures (n = 20) were performed successfully. Patients in the modified McIndoe group were similar to those in the Davydov group in terms of hospital stay and intraoperative complications. However, postoperative complications were higher in the McIndoe group. There were no significant differences in the neovaginal length and width of the two groups at the 6-month follow-up (P > 0.05). Other parameters (duration of mold use and blood transfusion) were similar for all patients in the two groups. At 12 months after surgery, all patients had regular sexual activity. No significant differences were found in either group. Conclusions: In terms of anatomical results, sexual performance, and satisfaction, the two techniques were similar. [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]

Background: Congenital vaginal insufficiencies are part of broad spectrum congenital female genitalia differences. Vaginal reconstruction aims to have a functional and serviceable vagina with no distortion of anatomical landmarks of the external genitalia and free from painful scars. Though a plethora of vaginal reconstructive techniques are available for congenital vaginal insufficiencies, a tailored and stratified approach based on the dysmorphogenesis of internal genitalia is the long-felt need of gynecologists and reconstructive surgeons. Of that, we designed an institutional protocol based on the clinico-radiological features of dysmorphogenic internal genitalia and was applied in this prospective cohort study. Methods: From 2010 to 2019, 54 patients with various degrees of vaginal insufficiencies were investigated clinically and radiologically. They were stratified into four groups and treated with the designed institutional protocol. At the end of follow-up, all patients were assessed with a questionnaire for subjective assessment (Institutional subjective scoring system for vaginoplasty- ISSSV) and they were examined by two independent observers for objective assessment (Institutional objective scoring system for vaginoplasty–IOSSV). The final score was computed and statistical analysis was done. Results: Average total score (including ISSSV and IOSSV) obtained in category 1A and category 1B were 14 (87.5%) and 14.75 (92.18%) respectively. Patients belonging to category 2A and 2B together scored 13.75 (85.93%) and category 3 got an average total score of 13.25 (82.81%). The average follow-up of all the patients is 18 months. Each category of patients showed significant p-value. The overall complication rate was 3%. Conclusions: It is cumbersome to formulate a schema covering all the vaginal malformations. This stratified reconstructive approach in the management of congenital vaginal insufficiencies and agenesis makes the complex and diverse presentations a simpler and easily applicable one. Level of evidence: Level III, Therapeutic study. [ABSTRACT FROM AUTHOR]

Introduction and hypothesis: The negative psychological impact on women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is long-lasting, resulting from not only the disease itself, but also the cumbersome and painful treatment process. However, little is known about the postoperative psychological status of these patients and related interventions to improve mental health. Here, in our study, we postulated that mental disorders exist in MRKH patients with a surgical neovagina and that psychological intervention will be helpful. Methods: Thirty MRKH women who had undergone vaginoplasty were enrolled. All patients had received psychological interventions since February 2020. Depression and anxiety questionnaires prior to and 2 weeks after the final intervention were recorded. Results: Before intervention, among 30 MRKH patients after artificial vaginoplasty, the median depression score was 6.00 (25th/75th percentile, 0.00/7.00), and the median anxiety score was 4.00 (25th/75th percentile, 1.00/7.00). After intervention, women's depression (p < 0.001) and anxiety (p < 0.001) scores significantly decreased. The median depression score was 0.00 (25th/75th percentile, 0.00/3.00), and the median anxiety score was 1.00 (25th/75th percentile, 0.00/3.25). Furthermore, stratified analysis found that the depression (p = 0.029) and anxiety (p = 0.019) scores both improved when intervention was performed within 12 months postoperatively. Conclusions: MRKH patients are at a great risk of depression and anxiety problems after artificial vaginoplasty. Early psychological intervention can alleviate these symptoms. Ongoing psychological support was needed to eliminate emotional burden during MRKH treatment, and further study is sorely needed to identify its appropriate timing and method. [ABSTRACT FROM AUTHOR]

This study aimed to evaluate the reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who were candidates for uterus transplantation (UTx) before inclusion in the experimental trial, and to summarize the existing experience with posttransplantation embryo transfers in functionally successful cases. A prospective study at a tertiary medical center. Ten pre-UTx women with MRKHS and 7 successful UTx cases. Ovarian stimulations, frozen embryo collection, embryo transfers, and incidence of pregnancy in MRKHS women in the pre- and posttransplantation periods. The average number of ovarian stimulations to collect the required frozen embryos was 1.9 (1-3). On average, the number of aspirated oocytes was 16.4 (7-38), 12.6 (5-26) oocytes were fertilized, and 7.0 (1-18) embryos were cryopreserved per cycle. To date, the average number of embryo transfers per recipient was 4.9 (3-8), and the embryo transfer/pregnancy rate was 8.8% (3 of 34). Three pregnancies have been achieved to date, including a missed abortion in the 8th week, a birth in the 35th week, and an ongoing pregnancy in the 30th week. Despite the small number of UTx cases, our data indicated that women with MRKHS showed a good response to ovarian stimulation and blastocyst formation. Although the procedures for fertilization, cryopreservation, and transfer of the embryos were standardized, the success rate per embryo transfer achieved in the study group has been low to date. [ABSTRACT FROM AUTHOR]

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients. However, studies focusing on the psychological influence on patients are limited and of unsatisfactory quality. The aim of this study was to investigate the prevalence of depressive symptoms in Chinese patients with MRKH syndrome and to identify the factors associated with depressive symptoms. We recruited 141 patients with MRKH syndrome and 178 age-matched healthy women as control group in this cross-sectional study. Depressive symptoms were assessed by the Patient Health Questionnaire-9 (PHQ-9). Other parameters such as sociodemographic characteristics, treatment histories, personality traits, and attitudes toward femininity and offspring, were also gathered in the self-administered questionnaire.Results: The PHQ-9 score was significantly higher in MRKH patient group than the age-matched control group (7.0 (4.5-11.0) vs. 6.0 (3.0-9.0)), median and IQRs) (P = 0.015). A total of 75.2% of MRKH patients suffered from depressive symptoms, and 34.0% reached a moderate to severe level, while the proportion in the control group was 61.2 and 24.2% respectively. Compared with other age groups, patients in their 20s scored higher on the PHQ-9. Patients with higher neuroticism levels in personality traits (OR 1.19 95% CI 1.11-1.28), negative self-evaluation of femininity (OR 3.964, 95% CI 1.371-11.464) and sexual dysfunction (OR 4.81 95% CI 1.24-18.72) (compared with those having no sexual activity) were more likely to exhibit depressive symptoms.Conclusions: Three-quarters of MRKH patients show depressive symptoms, and one-third of these individuals are even at risk for depressive disorders. Therefore, depressive symptom screening and proper psychotherapy in MRKH patients are of great importance. [ABSTRACT FROM AUTHOR]

Vaginal creation is the standard treatment for Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Although non‐surgical method is recommended as a first‐line treatment in the American College of Obstetricians and Gynecologists guidelines for gynecological practice, it is not commonly performed in Japan. At our hospital, vaginal dilation using uterine cervical dilators (Hegar's dilator) is performed for patients with MRKH syndrome. We report four cases successfully treated with vaginal dilation. After the examination, patients were instructed to practice daily self‐dilation at home. The initiation size was No. 13 with 10.5‐mm diameter. After the vaginal cavity was dilated to a depth of 6 cm, the size of dilators was gradually increased until No. 30 with 25‐mm diameter in a tip and 28‐mm diameter in a trunk. The duration required to achieve the outcome was 5–22 months. All cases were successfully treated without any severe complication. [ABSTRACT FROM AUTHOR]

Objective: To compare using the acellular porcine small intestinal submucosa (SIS) graft or the Interceed in patients with MRKH syndrome undergoing creation of a neovagina.Methods: In this retrospective study, patients with MRKH syndrome undergoing creation of a neovagina from 2016 to 2018 were retrospectively investigated. Wharton-Sheares-George neovaginoplasty was performed using the acellular porcine SIS graft or the Interceed.Results: Overall, 67 patients were included for analysis. The operating time, the estimated blood loss and return of bowel activity were similar between the two groups. However, the total cost in the SIS group was significantly higher than that in the Interceed group due to the cost of the SIS graft. The mean length and width of the neovagina were similar between the two groups. However, the incidence of granulation in vaginal apex was higher in the SIS graft group than that in the Interceed group. There was no statistically significant difference in the total FSFI scores between the two groups who became sexually active postoperatively.Conclusions: Our results demonstrated that Wharton-Sheares-George method provided the patients to have satisfactory sexual intercourse. The Interceed played a role in the reconstruction of neovagina no less than the SIS graft. [ABSTRACT FROM AUTHOR]

Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical self-dilation, surgical dilation, and surgical procedures involving skin or intestinal transplants. Subsequent uterus transplantation is necessary to enable pregnancy. We review the main characteristics, advantages, and disadvantages of established neovagina creation methods and discuss their suitability regarding subsequent uterus transplantation. Suitability criteria include sufficient vaginal length, absence of previous major intra-abdominal surgery, a natural vaginal axis, and a natural vaginal epithelium. In conclusion, Vecchietti-based laparoscopically assisted neovagina creation provides ideal functional conditions for uterus transplantation. Nonsurgical self-dilation and Wharton-Sheares-George vaginoplasty may also be suitable. TWEETABLE ABSTRACT: This review discusses the main advantages and disadvantages of neovagina creation methods with regard to subsequent uterus transplantation. [ABSTRACT FROM AUTHOR]

Abstract The transition from adolescence to young adulthood in patients with reproductive health care needs such as disorders of sexual development and congenital anomalies is a complex process that occurs over several years. The transition process for these patients is still poorly understood. The patients with disorders of sexual development and reproductive issues have specific and unique issues regarding timing of disclosure of diagnosis, genital examinations, gonadectomy, vaginal treatments, surgical procedures, hormone replacement therapy, use of long-term medication, and potential cancer screening. The purpose of this review is to briefly describe complex genital malformations and their associated anomalies with long-term concerns and then provide an overview of what has been published at this time regarding the transition of care to provide some guidance for providers who care for those patients. [ABSTRACT FROM AUTHOR]

Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital aplasia or severe hypoplasia of derivatives of the Müllerian ducts. Various methods of neovaginal creation have been described in the literature, each with its own advantages and disadvantages. This article presents the authors' experience with laparoscopic Davydov's peritoneal pull-through vaginoplasty in a tertiary-care center. Materials and Methods: This is a clinical case series of 13 women with MRKH syndrome who underwent laparoscopic Davydov's vaginoplasty in a tertiary-care center from January 2012 to May 2016. The procedure was planned 3 months before marriage. The procedure, intraoperative and postoperative details, and follow-ups of the women are presented. Results: Preoperative vaginal length, operating time, and blood loss were 1.38 ± 0.96 cm, 98.61 ± 6.18 minutes, and 33.07 ± 10.31 mL, respectively. There were no conversions to laparotomy; no blood transfusions; and no bladder, ureter, or bowel injuries. Postoperative vaginal length at 6 months was 8.23 ± 1.16 cm. Intercourse was attempted after 97.41 ± 21.84 days postsurgery. All patients had regular follow-ups at 6 weeks, 3 months, and 6 months, and 10 patients reported sexual satisfaction by both partners. Two patients with overall vaginal stenosis and 1 patient with apical stenosis were managed by lateral releasing incisions and a wider mold, respectively. Conclusions: Laparoscopic Davydov's procedure is a safe and effective approach for creating neovaginas in women with MRKH syndrome. The procedure has various advantages and confers lowered morbidity on patients. (J GYNECOL SURG 34:63) [ABSTRACT FROM AUTHOR]

Background: Leiomyomas arising from Müllerian remnants are a rare association with few case reports in literature. Most of the case reports have shown management with laparotomy. This report presents a case of a leiomyoma arising in a Müllerian remnant that was managed with laparoscopy. Case: A 33-year-old nulligravida presented with dyspareunia since marriage and an increase in urinary frequency since 3 years prior to presentation with no history of cyclical abdominal pain. Pelvic examination revealed a vaginal length of 7 cm and a 6 × 6 cm, firm right adnexal mass. Magnetic resonance imaging was suggestive of a hypoplastic uterus with a submucosal myoma or a broad ligament myoma. Laparoscopy showed a bilobed leiomyoma arising from the right Müllerian anlage with the right fallopian tube and ovary attached to its postero-superior surface. The bilobed leiomyoma, and the right Müllerian remnant along with the left rudimentary horn and both tubes were removed as a single contiguous specimen. Results: The patient's postoperative recovery was uneventful. Histopathology results were suggestive of a benign leiomyoma. On follow-up at 3 months, this patient was symptomatically improved. Conclusions: Leiomyomas from Müllerian remnants are rarely associated, which should be kept in mind in women with Mayer-Rokitansky-Küster-Hauser syndrome presenting with a pelvic mass. Laparoscopic management of such cases is feasible with the added advantages of minimally invasive surgery. (J GYNECOL SURG 33:276) [ABSTRACT FROM AUTHOR]

Vaginal agenesis is a congenital anomaly of the female genital tract occurring with an incidence of 1 in 4000-5000 live female births. Agenesis occurs in various conditions like Mayer-Rokitansky-Kuster-Hauser syndrome [MRKH syndrome], testicular feminization syndrome, adrenogenital syndrome or a combined congenital malformation. During a 13-year study period from August 2000 to July 2013, twenty one patients were referred to our department with primary amenorrhoea (16 patients) or inability to have a sexual intercourse (five patients). Vaginal agenesis has been treated by different modalities in the past. Mclndoe vaginoplasty is still considered to be the best procedure as it is simpler and does not involve extensive dissection, as with use of sigmoid colon and various fasciocutaneous/musculocutaneous flaps. Complete graft take was found in 47% (8 cases) in our series at the end of one week. All these patients were operated by the modified Mclndoe method using a semi rigid mould. In the last four patients, we further modified this Mclndoe procedure. In this modification we used a thick sheet of sponge folded like a cylinder as a mould inside the condom. Graft take was 100 % in this group of patients. Overall, 100% graft take was seen in twelve patients (57.14%) However, post operative discomfort was significantly decreased by the use of softer sponge mould in the later part of our study. Menstruation regularized in three patients and it was irregular in four patients. Among the five married patients, who had reported with inability to perform sexual intercourse, three had satisfactory sexual intercourse after the vaginoplasty. Softer and more conforming mould during the later part of our study has made it more acceptable with the advantages of reduced postoperative discomfort and complete graft take. [ABSTRACT FROM AUTHOR]

Objective: To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype.Study Design: A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015.Results: Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities.Conclusions: Our study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS. [ABSTRACT FROM AUTHOR]

Objective: To analyze the phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Design: Cross-sectional study.Setting: University hospital.Patient(s): Five hundred and ninety-four patients with MRKH syndrome.Intervention(s): Clinical examination, abdominal or perineal/rectal ultrasound, magnetic resonance imaging, hormonal profile, karyotype, and laparoscopy.Main Outcome Measure(s): Clinicopathologic data, VCUAM (vagina cervix uterus adnex-associated malformation) classification, types with cycle phase, and karyotype.Result(s): We identified associated malformations in 43 out of 594 (7.2%) cases of MRKH. The 594 patients could be grouped into hormone phases: 53.7% follicular, 35.2% luteal, and 11.1% ovulatory. The major karyotype of MRKH patients was 46,XX; abnormal karyotypes were found in two cases.Conclusion(s): A lower proportion of associated malformations were found when compared with those provided in the current literature. Renal anomalies were the most frequent associated malformations, and most of the patients presented with a normal karyotype. Given the large cohort of this study, the lower malformation rates might be related to geographic or referral patterns, so further investigation is warranted. [ABSTRACT FROM AUTHOR]

Background Mayer–Rokitansky–Küster–Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects. Case Herein we report a patient with 16p11.2 recurrent microdeletion in whom MRKH syndrome was diagnosed in adolescence. Summary and Conclusion Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of MRKH syndrome. [ABSTRACT FROM AUTHOR]

Study Objective The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by vaginal and uterine aplasia in a 46,XX individual. Multiple abnormalities may be associated with MRKH syndrome, and it appears to overlap other syndromes. The aim of this study was to describe the spectrum of associated malformations and syndromes as well as abnormal karyotypic findings in a large cohort of 346 patients. Design, Setting, and Participants The study is a retrospective analysis of 346 MRKH patients treated in the University Hospital in Tuebingen between 1998 and 2013. Main Outcome Measures The dataset was screened for typical associated malformations as well as atypical malformations and abnormal karyotypes. A complete review of the literature was included. Results Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MURCS syndrome. The group with associated malformations included 57.6% renal, 44.4% skeletal, and 30.8% other malformations. Additionally, we found 2 cases of absent radius syndrome, 3 cases of anal atresia, and 1 patient with oculodentodigital dysplasia, and other atypical malformations. Abnormal karyotypes were found in 5 cases, and 39 siblings and 11 parents had known malformations. Conclusions This study supports the hypothesis that the syndrome has a multifactorial pathogenesis. With the high numbers of associated malformations reported in this study, patients with MRKH syndrome should be regarded as having a complex syndrome. Molecular–genetic analyses in larger numbers of children after surrogacy, twin pregnancies, and familial cases may make it possible to obtain further information about the etiology of the syndrome. [ABSTRACT FROM AUTHOR]

Introduction and hypothesis: The aim of this study was to compare the technical feasibility and long-term anatomical and functional outcomes of a novel laparoscopic vaginoplasty using single peritoneal flap (SPF) and Davydov's laparoscopic technique in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Methods: From September 2004 to September 2013, a comparative study was conducted of 98 patients with MRKH syndrome who underwent either laparoscopic vaginoplasty using SPF (SPF group, 62 cases) or Davydov's laparoscopic technique (Davydov group, 36 cases) in a university-based tertiary care hospital. Intraoperative and postoperative parameters and anatomical examination findings of the two groups were compared. Functional results were assessed using the Female Sexual Function Index (FSFI). Results: All surgical procedures were performed successfully, with no intraoperative complications in either group. Patients in the SPF group had a significantly shorter operative time and less intraoperative blood loss than patients in the Davydov group. The postoperative course was identical for all patients in the two groups. The mean length and width of the neovagina in the two groups at hospital discharge, the 6-month follow-up, and the 12-month follow-up did not differ significantly. There were no significant differences between the groups with regard to the postoperative FSFI scores at 12 months after surgery. Conclusions: Although the long-term anatomical and functional outcomes of the two laparoscopic peritoneal vaginoplasty techniques are similar, laparoscopic vaginoplasty using SPF, which has many advantages and is easily performed by the gynecologist, is a more feasible and effective approach to creating a neovagina in patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

Objective To assess anatomical and functional outcomes of a novel laparoscopic vaginoplasty technique using a single peritoneal flap (SPF) in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design Prospective follow-up study. Setting University-based tertiary-care hospital. Patient(s) Patients with MRKH syndrome (n = 83) and randomly selected frequency-matched age-comparable healthy women serving as controls (n = 85). Intervention(s) From March 2004 to March 2014, a total of 83 patients with MRKH syndrome underwent laparoscopic vaginoplasty using an SPF. Main Outcome Measure(s) Intraoperative parameters, postoperative parameters, and anatomical outcomes were recorded. The functional results of patients who became sexually active were assessed using the Female Sexual Function Index (FSFI) questionnaire and were compared with those of the controls. Result(s) Laparoscopic vaginoplasty using an SPF was successfully performed in all 83 patients, with no intraoperative complications. The mean operative time and intraoperative blood loss were, respectively, 71.2 ± 18.9 minutes and 88.5 ± 57.2 ml. The mean length and width of the neovagina at the 6-month follow-up examination were, respectively, 8.2 ± 0.8 cm and 3.0 ± 0.6 cm. Anatomical success was achieved in all patients. At 12 months after surgery, functional success, as assessed by the FSFI questionnaire, was achieved in 95.3% of patients. The FSFI scores did not differ significantly between patients with MRKH and healthy women in a control group. Conclusion(s) Laparoscopic vaginoplasty using an SPF may be a feasible and effective approach that has satisfactory anatomical and functional outcomes for patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

Neovaginal prolapse (NP) is a rare event and limited cases have been reported in the literature. After surgical management, NP recurs in some cases, posing a great challenge to gynecologists. Fixing neovagina to sacrospinous ligament would appear to be a good option for preventing the recurrence of NP, but too few cases have been reported to establish this technique as the standard management of NP. Herein, we present a case of severe mucosal prolapse of sigmoid neovagina and conduct a review of the literature regarding the etiology, prevention, and management of NP. [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]

Objectives: The aim of this study was to evaluate the accuracy of preoperative magnetic resonance imaging (MRI) in the diagnosis of malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and identification of uterine endometrium to optimise the clinical management. Methods: We retrospectively reviewed 214 consecutive MRKH patients, mean age 19 years, who underwent laparoscopy-assisted neovagina creation. A total of 115 patients (53.7 %) met the inclusion criterion of sufficient preoperative MRI. In 110 of them (95.7 %), MRI findings were correlated with laparoscopy and associated malformations. In 39 cases (35.5 %) uterine rudiments were removed and analysed histopathologically. Results: Ten per cent (11/110) of the patients showed complete uterine agenesis. The others presented with either unilateral ( n = 16; 14.5 %) or bilateral ( n = 83; 75.5 %) uterine rudiments. MRI detection of uterine rudiments agreed in 78.2 % (86/110) with laparoscopy. In 85.4 % of the removed rudiments, MRI could correctly diagnose the existence of the endometrium. Compared to laparoscopy, MRI could exactly detect ovaries in 97.3 % (107/110). Renal or ureteral malformations were seen in 32 cases (27.8 %). In 83 % of unilateral renal agenesis and unilateral rudiment, the latter was located at the side of the kidney. Conclusions: MRI is useful for preoperative detection of MRKH-associated malformations and assessment of the endometrium to further optimise MRKH patient treatment. Key points: • Pelvic MRI is useful for preoperative detection of MRKH-associated malformations. • MRI can diagnose uterine endometrium in MRKH patients with high precision. • Preoperative MRI can optimise clinical management of patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

As a member of the homeobox (HOX) gene family, HOXA11 is expressed in the primordia of lower uterus and cervix during fetal life and is essential for endometrial development and embryo implantation in the adults. The aim of the present study was to investigate whether mutations in H0XA11 contribute to Müllerian duct anomalies (MDA) in Chinese. A cohort of 192 patients with MDA and 192 healthy controls was enrolled. Genomic DNA was extracted. All exons and exon-intron boundaries were amplified and sequenced. One novel synonymous variant (c.774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA 11 are not common in Chinese women with MDA. [ABSTRACT FROM AUTHOR]

Background and Objective: Mayer Rokitansky Kuster Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. This study was done to determine the mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene including DF508, G542X, N1303K, W1282X in patients with MRKH syndrome. Methods: This case-control study was performed on 25 females with MRKH syndrome and 25 healthy females. Blood sample was taken from each subject. DNA genomic was isolated by standard methods and common mutations of CFTR gene analyzed by ARMS-PCR. Results: ΔF508 gene was found in 3 in case and one individual in control group. G542X, N1303K and W1282X gene was not detected. Conclusion: DF508 gene was found in 12% of patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

The WNT9B gene is a common organizing signal regulating different segments of the mammalian urogenital system and plays a primary rote in the development of the female reproductive tract. The aim of the present work was to examine the presence of WNT mutations in a population of women with Müllerian duct abnormalities (MDA) in order to elucidate whether mutations in WNT9B are causative for MDA in Chinese women. Initially, 191 Chinese MDA patients and 192 healthy individuals (controls) were recruited. All coding regions were amplified by PCR and sequenced to search for variants. To verify the initial results, the numbers of patients and ethnic-matched controls were expanded to 542 and 563, respectively. One known single-nucleotide polymorphism and four novel variants were identified in the first stage: two were synonymous; the other two were rare nonsynonymous novel variants (c.566G>A (p.Arg189Gln) and c.773G>A (p.Arg258His)). None of the four novel variants was found in controls. In the second stage, both novel nonsynonymous variants were detected in MDA cases and controls. The results indicate that mutations in the coding sequence of WNT9B are not responsible for MDA in the Chinese population. [ABSTRACT FROM AUTHOR]

Objective: To analyze the histologic and immunohistochemical structure of uterine rudiments focusing on the endometrium in a representative group of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome compared with a control group. Design: Prospective comparative study. Setting: University hospital. Patient(s): Forty-two patients with MRKH syndrome and 13 control subjects. Intervention(s): Representative biopsies or whole uterine rudiments were removed during surgery and processed by a standardized procedure including immunohistochemical staining and analysis. Main Outcome Measure(s): Histologic structure, tissue types, hormone receptor expression, endometrial proliferative capacity, and type in correlation with cycle phase. Result(s): Twenty-two of the uterine rudiments showed a duct-like structure or small cavity, 17 of which contained endometrial epithelium and CD10-positive stroma. All rudiments contained an intact myometrial layer. Tubal epithelium and stroma were found in three rudiment samples. No significant differences were observed with regard to estrogen receptor (ER) or progesterone receptor (PR) expression in endometrium or myometrium. Interestingly, patients showed predominantly basalis-like endometrium with specific lack of CD90 expression and significantly lower proliferation compared with controls. Conclusion(s): All typical uterine tissues can be found in uterine rudiments of patients with MRKH syndrome. Expression of hormonal receptors in the latter and controls did not differ significantly. Endometrium shows predominantly basalis-like features in uterine rudiments. [ABSTRACT FROM AUTHOR]

Introduction and hypothesis: Congenital vaginal aplasia is a condition with devastating implications for fertility and sexuality. However, little is known on whether urinary symptomatology is more common prior and following vaginal lengthening procedures in these women. Methods: We performed a prospective observational study of 19 women with vaginal agenesis before and after vaginal dilation treatment or a laparoscopic Vecchietti procedure. All women completed the ICIQ FLUTS questionnaire before and after treatment in order to assess incidence and changes in urinary symptomatology. Results: Urinary symptoms were present in 53% of women prior to treatment. The majority of bladder symptoms were not significantly altered by treatment, except for incomplete bladder emptying. Women following the Vecchietti procedure had increased urinary hesitancy and a poorer steam compared with those completing dilation treatment. The longer the vaginal length, the greater the urinary frequency. Conclusion: Women with vaginal agenesis had significant levels of urinary symptoms and to our knowledge this has not been reported before. The majority of symptoms were not altered by treatment. [ABSTRACT FROM AUTHOR]

The paired box gene 2 (PAX2) has been proven to be a crucial gene during organogenesis of the urogenital system in mice models. This study was aimed to explore the relationship between PAX2 mutations and human Müllerian duct abnormalities (MDA). A total of 192 Chinese MDA patients (15 cases of uterine aplasia and 177 of incomplete Müllerian fusion) and 192 ethnic-matched controls were recruited from 2009 to 2011. Coding regions of PAX2 of MDA cases were amplified and sequenced. One rare novel synonymous variant (c.320G>A) was discovered in one patient with uterus didelphys, whereas this variant was not found in the control group. Mutations in PAX2 may be not a common cause of MDA. [ABSTRACT FROM AUTHOR]

Objective: To understand the efficacy of vaginal dilators in the management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design: Retrospective sequential study. Setting: Hospital. Patient(s): 245 women. Intervention(s): Vaginal dilators. Main Outcome Measure(s): Functional vaginal length and sexual satisfaction. Result(s): Of the patients who completed the program, 232 (94.9%) achieved a successful vaginal length (defined as greater than 6 cm in length and maximum width throughout the vagina and especially at the apex) and sexual function. When the program was completed by all patients, 100% of patients were successful. Conclusion(s): Vaginal dilator therapy is the treatment of first choice for creation of the vagina in MRKH syndrome, and the success rates suggest that surgery is rarely, if ever, required. [ABSTRACT FROM AUTHOR]

Objective: Uterine transplantation experiments have been performed in various animal species for future clinical applications of uterine transplantation for permanent uterine factor infertility in humans. The aim of this study was to confirm the feasibility of uterine auto-transplantation in cynomolgus monkeys by developing new surgical techniques. Methods: Two female cynomolgus monkeys underwent surgery under general anesthesia. The uterus with vascular grafts and the vaginal wall was removed, and back-table preparation was performed using heparinized saline. The uterus with vascular grafts and the vaginal wall was anastomosed with the vaginal stump and blood vessels in the pelvis, respectively. The auto-transplant uterine function was evaluated by confirming engraftment of the uterus by laparotomy, endometrial proliferation by transabdominal ultrasonography and periodical menstruation. Results: The first animal died due to acute renal failure 2 days after the operation. Second-look laparotomy in the second animal at 40 days after the operation indicated there was no congestion in the uterus, and the uterus showed the typical red color of a normal uterus. Thereafter, endometrial proliferation was observed by transabdominal ultrasonography and periodical menstruation was confirmed, indicating re-established uterine function. Conclusion: This is the preliminary report of uterine auto-transplantation in cynomolgus monkeys. This study demonstrates the feasibility of uterine auto-transplantation by using new surgical technique in cynomolgus monkeys. Accumulation of basic experimental data in non-human primates is required prior to performing the procedure in humans. [ABSTRACT FROM AUTHOR]

BACKGROUND The genital malformations in Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) are frequently accompanied by associated malformations whose forms were recently classified as typical (isolated uterovaginal aplasia/hypoplasia) and atypical (the addition of malformations in the ovary or renal system). The aim of this study was to compare the surrogate IVF performance of women with typical and atypical forms including their chances of achieving pregnancy. METHODS The follow-up data on a total of 102 cycles of surrogate IVF in 27 MRKH patients treated in our department between 2000 and 2010 were analysed. Twenty patients with the typical form who underwent 72 IVF cycles were compared with seven patients with the atypical form who underwent 30 IVF cycles. The various examined parameters of these intended mothers were age, hormonal profile during controlled ovarian hyperstimulation and laboratory outcome. RESULTS The mean number of gonadotrophin ampoules needed for stimulation and treatment duration was significantly higher in the atypical form (3600 ± 1297IU for 13 ± 2.3 days versus 2975 ± 967 IU for 11.6 ± 1.6 days, P≤ 0.01). Serum estradiol and progesterone levels measured on the hCG administration day were similar. A significantly higher mean number of follicles 12.6 ± 6 versus 8.9 ± 5.4, P≤ 0.03, metaphase II (MII) oocytes 8.7 ± 5.1 versus 6.7 ± 4.8, P≤ 0.05, fertilizations 6 ± 3.6 versus 4.4 ± 3.3, P≤ 0.03 and cleaving embryos 5.7 ± 3.8 versus 4.1 ± 3.3, P≤ 0.01 were available in patients with the typical form compared with those with the atypical form, respectively. There was no significant difference in fertilization rate, cleavage rate or the mean number of transferred embryos. Embryo quality of the transferred ones and pregnancy rate per cycle were also similar between the two groups. CONCLUSIONS Women with the typical form of MRKH needed fewer gonadotrophins and for a shorter duration for ovarian hyperstimulation. The mean number of follicles, oocytes, MII oocytes, fertilizations and cleaving embryos was higher among women with the typical form. Pregnancy rates were similar since the available number and quality of transferred embryos to the surrogate mother were not affected. [ABSTRACT FROM AUTHOR]

Background: The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex - associated Malformation classification system (VCUAM). Methods: 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. Results: Classification of female genital malformation according to the Vagina Cervix Uterus Adnex - associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women. Conclusions: Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities. [ABSTRACT FROM AUTHOR]

Objective: To compare different diagnostic procedures for staging malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design: Retrospective two-center cohort study (Canadian Task Force classification II-2). Setting: University hospital. Patient(s): One hundred and thirty-eight women with MRKH. Intervention(s): Clinical examinations, abdominal or perineal/rectal ultrasound, magnetic resonance imaging (MRI), and laparoscopy. Main Outcome Measure(s): Agreement between the results obtained with the other methods and the results obtained with the reference methods for correct staging of malformations, presented as kappa values (κ). Result(s): The VCUAM (vagina cervix uterus adnex-associated malformation) classification system was used to classify genital malformations in 138 women with MRKH. The reference methods for examining the individual organs were: vagina-clinical examination; cervix/uterus and adnexa-laparoscopy; and urinary tract malformations-MRI. The values obtained were as follows. Vagina was κ 0.74 for MRI versus clinical examination; ultrasound and laparoscopy did not allow adequate description of vaginal malformations. Cervical findings were rarely detailed with any of the imaging methods. Uterus was κ 0.93 for MRI versus laparoscopy, and κ 0.83 for ultrasound. For adnexa, only laparoscopy was able to describe the morphology adequately. The urinary tract was κ 0.87 for ultrasound versus MRI. Conclusion(s): For the correct staging of malformations associated with MRKH, MRI or a combination of clinical examination and ultrasound are equivalent. However, none of the imaging methods adequately describes adnexal morphology. [ABSTRACT FROM AUTHOR]

Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites. [ABSTRACT FROM AUTHOR]

Abstract: Study Objective: To report on minor modification of laparoscopic Vecchietti vaginoplasty and to examine the quality of sexual life after the operation. Design: A retrospective study to examine the role of minor modification during laparoscopic Vecchietti operation to prevent injuries and to evaluate the sexual function of patients with neovagina. Setting: Department of Obstetrics and Gynecology, University of Pécs, Faculty of Medicine, a tertiary supply center in Hungary. Paticipants: Twenty-three adolescents or young adults, ages 16 to 26 with vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) were operated. Twenty-five sexually active patients with matched age served as controls. Interventions: Laparoscopic Vecchietti operation was modified with the use of endovaginal ultrasound transducer to visualize the narrow vesico-rectal space. The quality of sexual life 2–11 years after the operation was measured by the Female Sexual Function Index (FSFI). Main Outcome Measures: Complications occurring during operations; desire, arousal, orgasm, satisfaction, lubrication, and pain during sexual intercourse. Results: The technical modification of the operation, with endovaginal transducer, improved the method. Serious injuries of the bladder or rectum could be avoided. Anatomic and functional results shown by the total FSFI scores did not differ from that of the control group. Desire, arousal, orgasm, and satisfaction of the operated patients were similar to controls; however, patients with neovagina tended to have less lubrication and more pain during sexual intercourse. Conclusions: Laparoscopic Vecchietti operation modified by the use of endovaginal transducer is a safe procedure to create a neovagina, which guarantees good quality of sexual life with high satisfaction for patients. [Copyright &y& Elsevier]

Objective: To evaluate the technical feasibility and anatomical and functional outcomes of one-stage transvestibular vaginoplasty with pelvic peritoneum for the patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Design: A retrospective review of prospectively collected data. Setting: A university hospital. Patient(s): A total of 182 women with MRKH syndrome. Intervention(s): Undergoing transvestibular vaginoplasty with pelvic peritoneum. Main Outcome Measure(s): The perioperative results, complications, and anatomical and functional outcomes of transvestibular vaginoplasty with pelvic peritoneum. Result(s): The mean operative time was 72.2 minutes (range 55–150 minutes). Average blood loss was 78.5 mL (range 40–170 mL). The only perioperative complication was one case of rectal-vaginal fistula. Thirty-four patients had vault granulation at the neovagina, which healed after trimming and the mean length of the neovagina was 9 cm (range 7–12 cm) without any shrinkage at the follow-up of 3 months after operation. The neovaginal introitus admitted two fingers in width in all patients. Good functional outcomes were found in the patients at follow-up 15 years after surgery with 80% of the cumulative proportion of sexual satisfactory activity. Conclusion(s): Transvestibular vaginoplasty with pelvic peritoneum is an effective and feasible approach for women with MRKH syndrome. The procedure has satisfactory long-term anatomical and functional results. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: The Mayer–Rokitansky–Küester–Hauser (MRKH) syndrome can be either isolated uterovaginal agenesis or associated with other organ anomalies. However, MRKH co-existing with rectovestibular fistula and imperforate anus is uncommonly seen. We present the specific clinical manifestation and discuss the diagnosis and treatment for this unique subtype of MRKH. Study design: We reviewed 133 cases with MRKH admitted in our hospital within a 10-year span. Among them, three cases of uterovaginal agenesis concomitant with rectovestibular fistula and imperforate anus were reported in detail. Results: This scenario of MRKH with rectovestibular fistula was characterized by the common features of two openings in the perineum along with an imperforate anus. Our patients were older girls whose main complaints were of primary anomerrhea and leakage of loose stool. A one-stage repair of anorectovaginoplasty was used in two patients, and with laparoscopic assistance in one case. Thirty-two similar cases in the previous relevant literature were also systematically reviewed. Conclusion: MRKH with rectovestibular fistula and imperforate anus is extremely rare. A thorough understanding of this unique entity helps establish the correct and timely diagnosis, and also avoids inappropriate operative treatment. [ABSTRACT FROM AUTHOR]