Mayer-Rokitansky-Küster-Hauser Patients Research Articles

Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.

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. 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. 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. 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.

Long term sexual outcomes of Mayer Rokitansky Küster Hauser Syndrome patients after Uncu-modified Davydov procedure.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome has an incidence of 1 in 4000. The absence of the vagina and uterus results in sexual dysfunction and infertility. The first-line treatment is vaginal dilatation. There exists a number of second-line surgical options including the Uncu-modified Davydov procedure. To determine the complication rate, anatomical outcomes, and long-term sexual outcomes of MRKH syndrome patients after Uncu-modified Davydov procedure. Patients with MRKH syndrome who underwent paramesonephric remnant-supported laparoscopic double-layer peritoneal pull-down vaginoplasty (aka Uncu-modified Davydov procedure) between January 2008 and December 2021. The procedure involves laparoscopic circular dissection of the pelvic peritoneum followed by pulling down, through the opened vaginal orifice, and suturing the vaginal cuff with the support of uterine remnants. The long-term complication rate, anatomical outcomes, and sexual function outcomes (as measured by Female Sexual Function Index (FSFI)) were ascertained. Main Outcome Measures: The long-term complication rate, anatomical outcomes and FSFI survey results. A total of 50 patients with MRKH syndrome underwent the Uncu-modified Davydov procedure between Jan 2008- Dec 2021. There were four perioperative complications: three bladder injuries (6%) and one rectal serosa injury (2%). Four long-term postoperative complications were identified: one vesicovaginal fistula (2%), one recto-vaginal fistula (2%), and two vaginal stenoses (4%). All patients were physically examined at least one year after surgery. The mean vaginal length was 8.4 + 1.9 cm. The mean FSFI score was 31.5 + 3.9 (minimum score of 24, maximum score of 36). Conclusion: The Uncu-modified Davydov procedure has been demonstrated to be a safe and effective treatment option with high female sexual function index scores for patients with MRKH syndrome. The long-term complication rate, anatomical and sexual outcomes of Uncu-modified laparoscopic peritoneal pull-down vaginoplasty were reported in this study. The results indicated that the surgical approach could be used in selective MRKH patients who failed first-line self-dilatation therapy.

Comparing Anatomical and Functional Outcomes of Two Neovaginoplasty Techniques for Mayer-Rokitansky-Küster-Hauser Syndrome: A Ten-Year Retrospective Study with Swine Small Intestinal Submucosa and Homologous Skin Grafts.

This study aimed to compare the anatomical and functional outcomes of the modified McIndoe vaginoplasty for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome using swine small intestinal submucosa (SIS) graft or homologous skin grafts. A total of 115 patients with MRKHs who underwent neovaginoplasty between January 2012 and December 2021 were included in the study. Among them, 84 patients received vaginal reconstruction with SIS graft, whereas 31 neovaginoplasty underwent a skin graft procedure. The length and width of the neovagina were measured, and sexual satisfaction was evaluated using the Female Sexual Function Index (FSFI). The operation details, cost, and complications were also assessed. The SIS graft group had a significantly shorter mean operation time (61.13±7.17min) and less bleeding during the operation (38.57±9.46mL) compared to the skin graft group (92.1±9.47min and 55.81±8.28mL, respectively). The mean length and width of the neovagina in the SIS group were comparable to the skin graft group at 6 months follow-up (7.73±0.57 cm versus 7.6±0.62cm, P=0.32). The SIS group had a higher total FSFI index than the skin graft group (27.44±1.58 versus 25.33±2.16, P=0.001). The modified McIndoe neovaginoplasty using SIS graft is a safe and effective alternative to homologous skin grafts. It results in comparable anatomical outcomes and superior sexual and functional outcomes. Overall, these results suggest that the modified McIndoe neovaginoplasty using SIS graft is preferred for MRKH patients who require vaginal reconstruction.

Magnetic resonance imaging in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea: a prospective study

BackgroundThis study aims to characterize the spectrum of imaging findings in patients of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea.Objectives(1) To aid in clinical diagnosis of MRKH syndrome. (2) To detect the associated non gynecological anomalies. (3) To arrive at optimal management options.ResultsThis prospective observational study was performed in 14 subjects who presented with primary amenorrhoea and diagnosed as MRKH on MRI from 1st January, 2021 to 30 June, 2022. Out of 14 patients, 4 patients showed hypoplastic uterus while remaining 10 showed complete uterine agenesis. Mean volume of hypoplastic uterus was 5.3 ml. Out of 10 patients with complete uterine agenesis, 9 showed bilateral rudimentary uterine buds connected by a fibrous band while 1 showed unilateral bud. 3 uterine buds showed three layered zonal differentiation of which 2 showed blood within lumen suggesting functioning endometrium. 1 uterine bud was located outside pelvis. Bilateral ovaries were noted in all 14 patients of which 4 ovaries were located outside pelvis and 1 ovary showed endometrioma within. 10 patients showed complete agenesis of proximal 2/3rd of vagina. Among non-gynecological findings, 2 showed unilateral renal agenesis and 1 showed unilateral hypoplastic kidney. 1 patient showed dorsal dermal sinus.ConclusionsThe findings in MRKH patients varies from complete uterine agenesis with rudimentary uterine buds or normal positioned hypoplastic uterus. The uterine buds can be functional with collection within endometrium and could lead to endometrioma formation due to retrograde menstruation. Ovaries and uterine buds can have an extra-pelvic location.

Endometriosis in Patients with Mayer-Rokitansky-Küster-Hauser-Syndrome—Histological Evaluation of Uterus Remnants and Peritoneal Lesions and Comparison to Samples from Endometriosis Patients without Mullerian Anomaly

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

Endometrial organoids derived from Mayer-Rokitansky-Küster-Hauser syndrome patients provide insights into disease-causing pathways.

ABSTRACTThe uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current research in the field of MRKH mainly focuses on DNA-sequencing efforts and, so far, has been unable to decipher the nature and heterogeneity of the disease, thereby holding back scientific and clinical progress. Here, we developed long-term expandable organoid cultures from endometrium found in uterine rudiment horns of MRKH patients. Phenotypically, they share great similarity with healthy control organoids and are surprisingly fully hormone responsive. Transcriptome analyses, however, identified an array of dysregulated genes that point to potentially disease-causing pathways altered during the development of the female reproductive tract. We consider the endometrial organoid cultures to be a powerful research tool that promise to enable an array of studies into the pathogenic origins of MRKH syndrome and possible treatment opportunities to improve patient quality of life.

An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital malformations of Müllerian structures, including the uterus and upper two-thirds of the vagina in women. Until now, the etiology of this disease has remained unknown. We hypothesized that EMX2 (the human homologue of Drosophila empty spiracles gene (2) might be a candidate gene for MRKH syndrome because it plays an important role in the development of the urogenital system. Through sequence analysis of EMX2 in forty patients with MRKH syndrome and one hundred and forty healthy women controls, we identified eleven variations in total. Four novel variations were only found in MRKH patients, and seven single nucleotide polymorphisms were identified in both patients and controls. In silico analyses suggested that the novel variations in the 5′UTR (untranslated region) and 3′UTR might affect transcriptional activity of the EMX2 promoter or posttranscriptional processing. In conclusion, our study suggests an association between noncoding variations in the EMX2 gene and MRKH syndrome in a Chinese Han population.

The impact of Mayer-Rokitansky-Küster-Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review.

Background: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital syndrome characterized by uterovaginal agenesis. Most patients are diagnosed during adolescence, when body image and sexual identity are shaped. Our main objective was to investigate how MRKH syndrome affects psychology, quality of life (QoL), and the sexual life of patients compared with non-affected individuals. Methods: Original peer-reviewed research papers examining psychological outcomes, QoL, and sexual function of MRKH patients were searched in PubMed. Titles, abstracts, and full text from potentially eligible records were reviewed by two independent reviewers. Case reports and papers published not in English were excluded. Results: Our search identified 63 records, of which 20 were included: 10 examined psychological and psychosocial outcomes, 14 examined sexual function outcomes, and 6 examined QoL outcomes. Results may be affected by selection bias and confounding due to differences between MRKH patients and controls. Conclusions: MRKH could be associated with a higher prevalence of anxiety and depression symptoms and social insecurity compared with women of a similar age without the condition. MRKH could also be associated with greater pain and discomfort during sexual intercourse and limitations in arousal, lubrication, and orgasm. MRKH patients more commonly experience impairment of mental-health-related QoL, but physical-health-related QoL is not affected.

Psychological intervention in women with Mayer-Rokitansky-Küster-Hauser syndrome after artificial vaginoplasty: a prospective study.

Introduction and hypothesisThe 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.MethodsThirty 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.ResultsBefore 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.ConclusionsMRKH 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.

Clinical Features and Management of Endometriosis among Patients with MRKH and Functional Uterine Remnants

Objective: This study aimed to determine the clinical features of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients with functional uterine remnants and endometriosis in a large cohort of Chinese patients. Design: This was a retrospective study. Participants: This study had a cohort of 511 MRKH patients. A total of 34 MRKH patients with functional remnant were finally included. Setting: This study included a tertiary referring hospital in China. Methods: Patients with MRKH diagnosed and treated at Peking Union Medical College Hospital from January 2009 to January 2020 were recruited. A cohort of 511 MRKH patients were retrospectively screened, and a total of 34 MRKH patients with functional remnant were finally included. Relevant clinical data were reviewed retrospectively from medical charts. Results: Of 34 patients with MRKH and functional uterine remnants, 23 (68%) had endometriosis. These patients had a greater mean age at MRKH diagnosis than patients without endometriosis (15.9 ± 3.3 years vs. 13.2 ± 3.5 years; p = 0.03). Similarly, these patients experienced a longer time between age at onset of symptoms and age at operation than patients without endometriosis (45.5 ± 39.6 years vs. 19.8 ± 13.2 years; p = 0.04). In addition, the CA125 level was significantly higher in patients with endometriosis than in those without it (64.9 ± 85.9 U/mL vs. 25.5 ± 19.1 U/mL; p = 0.03). Limitations: The number of patients with MRKH analyzed in this study was low as we restricted inclusion to patients with at least 1 functional uterine remnant or endometriosis. Conclusions: It is reasonable to monitor the uterine remnant of patients with MRKH closely, regardless of age, to achieve early intervention. The level of CA125 might be helpful to differentiate active uterine remnants with endometriosis and schedule individualized treatments.

Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.

Simple SummaryWomen affected by Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome show an underdeveloped or absent vagina and uterus, frequently in association with renal defects. The aetiology of MRKH syndrome is controversial. Only a few cases could be related to genetic anomalies, while the vast majority of them lack a precise molecular cause. We found that protein kinase X (PRKX) levels are upregulated in vaginal keratinocytes from MRKH patients with respect to healthy women. Through in vitro investigations, we highlighted that PRKX ectopic overexpression is able to influence vaginal keratinocytes’ cell shape and motility through the induction of epithelial-to-mesenchymal transition (EMT). Moreover, PRKX ectopic overexpression exerts a broad effect on the expression of HOX genes, which encode for essential factors implicated in embryo organogenesis. The present study suggests a possible molecular cause for MRKH syndrome and a role for PRKX in vaginal keratinocyte biology.Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare and complex disease defined by congenital aplasia of the vagina and uterus in 46,XX women, often associated with kidney and urinary tract anomalies. The aetiopathogenesis of MRKH syndrome is still largely unknown. Herein, we investigated the role of selected candidate genes in the aetiopathogenesis of MRKH syndrome, with a focus on PRKX, which encodes for protein kinase X. Through RT-qPCR analyses performed on vaginal dimple samples from patients, and principal component analysis (PCA), we highlighted a phenotype-related expression pattern of PRKX, MUC1, HOXC8 and GREB1L in MRKH patients. By using an in vitro approach, we proved that PRKX ectopic overexpression in a cell model of vaginal keratinocytes promotes cell motility through epithelial-to-mesenchymal transition (EMT) activation, a fundamental process in urogenital tract morphogenesis. Moreover, our findings showed that PRKX upregulation in vaginal keratinocytes is able to affect transcriptional levels of HOX genes, implicated in urinary and genital tract development. Our study identified the dysregulation of PRKX expression as a possible molecular cause for MRKH syndrome. Moreover, we propose the specific role of PRKX in vaginal keratinocyte biology as one of the possible mechanisms underlying this complex disease.

19. Knowledge of Human Papillomavirus, Human Papillomavirus Vaccination, and other Sexually Transmitted Infections among Individuals with Mayer-Rokitansky-Küster-Hauser Syndrome

<h3>Background</h3> Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition typified by underdevelopment of the female reproductive tract. Much of the MRKH literature addresses surgical options and psychosocial aspects, however little is known about the routine gynecologic care of individuals with MRKH. The purpose of this study was to assess the knowledge of and prior counseling on genital infection and prevention in a sample of people with MRKH. <h3>Methods</h3> The Beautiful You MRKH Foundation disseminated an IRB-approved, web-based survey through social media. Participants were eligible if they had previously been diagnosed with MRKH and were 18 years and older. Survey content included past gynecologic counseling, sexually transmitted genital infection knowledge, and sexual history. Questions assessing knowledge of human papillomavirus (HPV) and sexually transmitted infections (STI) were adapted from validated tools. For unanswered survey questions, an analysis was conducted according to the number of responses for each question. <h3>Results</h3> Eighty respondents consented to the study, mean age 30 ± 9 years. The majority (73%, 58/80) never received HPV vaccination counseling. Of the respondents, 38 out of 80 (48%) never received any HPV vaccine, 10 (13%) were unsure, 6 (8%) received at least one dose, and 26 (33%) completed the vaccination series. The most common reasons for not being vaccinated were lack of knowledge about the vaccine (22%, 8/37), did not think it was necessary (14%, 5/37), not sexually active (11%, 4/37), and did not want to receive the vaccine (11%, 4/37). The majority (61%, 49/80) also did not receive counseling on other STI. Sixty respondents completed the knowledge portion of the survey. HPV knowledge was low; 13 did not think they were a candidate for the HPV vaccine (22%) and 22 were unsure (37%). Less than half of respondents thought the HPV vaccine could help prevent anal cancer (15%), genital warts (30%), and vulvar/vaginal cancer (48%). Twenty-four respondents (40%) thought routine pap smear screening should be performed among MRKH patients, and 20 (33%) were unsure. The majority responded that sexually active persons with MRKH should be routinely tested for STI (87%) and use condoms (82%). Sixty-four percent of 56 respondents were undecided or unhappy with the gynecologic care they have received, and 75% strongly wished their providers knew more about MRKH. <h3>Conclusions</h3> The majority of individuals with MRKH did not receive adequate HPV, HPV vaccination, and STI counseling. As a result, the majority did not receive the vaccine. These data indicate that there is a lack of appropriate gynecological care for people with MRKH.

Protein\u2013protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer\u2013Rokitansky\u2013K\xfcster\u2013Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disease, characterised by the aplasia of vagina and uterus in women with a 46,XX karyotype. Most cases are sporadic, but familial recurrence has also been described. Herein, we investigated an Italian cohort of 36 unrelated MRKH patients to explore the presence of pathogenic copy number variations (CNVs) by array-CGH and MLPA assays. On the whole, aberrations were found in 9/36 (25%) patients. Interestingly, one patient showed a novel heterozygous microduplication at Xp22.33, not yet described in MRKH patients, containing the PRKX gene. Moreover, a novel duplication of a specific SHOX enhancer was highlighted by MLPA. To predict the potential significance of CNVs in MRKH pathogenesis, we provided a network analysis for protein-coding genes found in the altered genomic regions. Although not all of these genes taken individually showed a clear clinical significance, their combination in a computational network highlighted that the most relevant biological connections are related to the anatomical structure development. In conclusion, the results described in the present study identified novel genetic alterations and interactions that may be likely involved in MRKH phenotype determination, so adding new insights into the complex puzzle of MRKH disease.

Urinary Incontinence in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome Is Independent of Treatment Strategy

<h3>Study Objective</h3> Evaluate the level of distress secondary to urinary incontinence in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and assess if it differs based on treatment strategy. <h3>Design</h3> Cross-sectional. <h3>Setting</h3> Online support communities for patients with MRKH. <h3>Patients or Participants</h3> Patients with MRKH aged ≥18 years who consented to participate. <h3>Interventions</h3> The participants answered an online-based survey in which demographic and clinical information was collected. Additionally, a section with adapted versions of the Urinary Distress Inventory-6 (UDI-6) and the Incontinence Impact Questionnaire-7 (IIQ-7) was incorporated to evaluate for urinary symptomatology and its impact on quality of life. <h3>Measurements and Main Results</h3> 65 patients with a median age of 32 years (range: 18-63) answered the survey. 27 (41.5%) had not undergone any procedure, 24 (36.9%) underwent vaginal dilation, 8 (12.3%) McIndoe vaginoplasty and 6 (9.2%) laparoscopic Vecchietti vaginoplasty. Overall, 53.8% reported symptoms of irritative incontinence, 63% of stress incontinence and 69.2% obstructive/discomfort symptoms. Furthermore, 32.3% of patients reported that urinary symptoms impacted their emotional health to some extent. Mean scores of the UDI-6 and IIQ-7 did not differ between treatment groups, even when non-invasive and invasive procedures were compared (<i>p</i>=0.96). <h3>Conclusion</h3> In this study, MRKH patients with four different treatment strategies did not have statistically significant differences in the severity of urinary symptoms or their effect on quality of life.

The Endometrial Transcription Landscape of MRKH Syndrome.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the syndrome has remained largely enigmatic. A comprehensive understanding of gene activity in the context of the disease is crucial to identify etiological components and their potential interplay. So far, this understanding is lacking, primarily due to the scarcity of samples and suitable tissue. In order to close this gap, we profiled endometrial tissue of uterus rudiments in a large cohort of MRKH patients using RNA-seq and thereby provide a genome-wide view on the altered transcription landscape of the MRKH syndrome. Differential and co-expression analyses of the data identified cellular processes and candidate genes that converge on a core network of interconnected regulators that emerge as pivotal for the perturbed expression space. With these results and browsable access to the rich data through an online tool we seek to accelerate research to unravel the underlying biology of the syndrome.

Sexual function and quality of life after the creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: comparison of vaginal dilation and surgical procedures

To compare sexual function and outcomes of quality of life of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome after vaginal dilation and surgical procedures. Cross-sectional study from January 2019 to June2019. Tertiary teaching hospital. Women with MRKH syndrome treated with vaginal dilation (n = 88) or surgical procedures (n = 45). WeChat-based questionnaires were distributed to every group member in our MRKH support group. Sexual functional were assessed by means of the Female Sexual Function Index (FSFI). Outcomes of quality of life were assessed by means of the 12-item World Health Organization Disability Assessment Schedule 2 (WHODAS2). Vaginal length was defined as the maximum depth of the placement of the vaginal mold. The FSFI scores were similar between the dilation (24.49 ± 4.51) and surgery (23.79 ± 3.57) groups. Except for the higher orgasm score in the dilation group (9.96 ± 3.60 vs. 8.20 ± 2.67), the other dimensions of the FSFI were not significantly different between the groups. No significant differences were found in the WHODAS2 scores between the dilation group (median 8.33 [interquartile range 4.17-15.62]) and the surgery group (6.25 [2.08-14.58]). However, the vaginal length was significantly shorter in the dilation group (6.5 ± 2.04 cm) than in the surgery group (8.1 ± 1.59 cm). Although the vaginal length was shorter in the dilation therapy group than in the surgical therapy group, sexual function and quality of life were similar between these two groups. Vaginal dilation should be proposed as the first-line therapy for MRKH patients.

Typical and atypical pelvic MRI characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a comprehensive analysis of 201 patients.

To comprehensively evaluate the pelvic magnetic resonance imaging (MRI) findings of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and summarize the typical and atypical characteristics. A retrospective analysis of 201 consecutive MRKH patients was carried out. Pelvic MRI was reviewed by two experienced gynecological radiologists in consensus. Characteristics including the morphology, signal pattern and volumes of the uterine rudiments, location and volume of the ovaries, and the degree of vaginal dysgenesis were evaluated. Other noted abnormalities were also recorded. Morphologically, the majority (95%) of patients displayed bilateral uterine rudiments combined with a fibrous band. The minority of patients showed no (3.5%) or unilateral (1.5%) uterine rudiments. A total of 385 uterine rudiments were detected which showed four types of signal patterns: one-layer differentiation (325, 84.4%), two-layer differentiation (27, 7%), three-layer differentiation without subsequent alteration (23, 6.0%), and three-layer differentiation with hematometra and/or ipsilateral hematosalpinx (10, 2.6%). The median volumes of these four types of uterine rudiments were 2.6ml (1.69-3.81ml), 3.19ml (2.67-4.51ml), 6.05ml (3.37-12.44ml), and 31.97ml (19.2-38.7ml), respectively. The mean ovarian volume was 6.49 ± 3.91ml. Abnormally located ovaries were detected in 63 (31.3%) patients. The distal vagina was discernable in 25.1% of patients. MRKH patients typically display bilateral uterine rudiments combined with a fibrous band and normally located ovaries. The uterine rudiments are generally small with only one-layer differentiation, a subset of which might be large and exhibited other atypical presentations, including two- or three-layer differentiation or even hematometra. Abnormally located ovaries are not rare. • Morphologically, MRKH patients typically displayed bilateral uterine rudiments combined with a fibrous band. • Typically, the uterine rudiments (84.4%) were small and displayed only one-layer differentiation. • About 15.6% of rudiments showed atypical characteristics including two- or three-layer differentiation, even complicated with hematometra or hematosalpinx.

Anxiety symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a cross-sectional study.

Background:As a congenital malformation that results in infertility and an inability to have vaginal intercourse, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome places a considerable psychological burden on patients, which results in anxiety symptoms. However, only single case studies or a few small to medium-sized cross-sectional studies were identified to focus on anxiety symptoms in MRKH patients. Thus, the aim of this study was to explore the status of anxiety symptoms and the related factors in patients with MRKH syndrome.Methods:This cross-sectional study involving 141 patients with MRKH syndrome and 178 healthy women was conducted from January 2018 to December 2018. All participants were required to complete a demographic questionnaire and the Generalized Anxiety Disorder 7-item scale (GAD-7), Patient Health Questionnaire-9, Eysenck Personality Questionnaire-Revised, Short Scale for Chinese, and Chinese Version of the Female Sexual Function Index. The main outcome was the anxiety symptoms measured by the GAD-7. Main outcome was compared between the MRKH syndrome group and the healthy control group. Then, we explored the related factors by comparing patients with and without anxiety symptoms.Results:Of the respondents, 24.1% experienced moderate to severe anxiety symptoms. Patients with MRKH syndrome manifested more severe anxiety symptoms than healthy women. Negative self-evaluation of femininity (odds ratio [OR] 2.706, 95% confidence interval [CI] 1.010–7.247), neurotic personality traits (OR 1.100, 95% CI 1.029–1.175), and coexisting depressive symptoms (OR 4.422, 95% CI 1.498–13.049) were more prevalent in anxious patients.Conclusion:The findings stress the importance of anxiety symptom screening in MRKH patients and identify patients at risk of anxiety symptoms, providing a possible basis for future intervention.

Anatomical and Sexual Functions at Post Neovagina operation on Mayer Rokitansky Kuster Hauser Syndrome (MRKH) Patients with Sigmoid ,Amnion and Conventional Methods in Dr. Soetomo Hospital

ABSTRACT Background: The Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is congenital malformation due to utero‐vaginal agenesis. For many years Dr Soetomo Hospital has been applying McIndoe technique using biomaterial amnion. Recently, in collaboration with digestive surgery, neovagina operation using sigmoid was performed. However, no data are available on the complications, anatomic, and functional results of the neovagina operation using sigmoid and amnion. Methods: MRKH patients who have performed neovagina operations from January 2011 to December 2014 were involved in this case review. The anatomical function was measured based on minimal vaginal length of more than 6 cm and width of 3 cm, while sexual performance is measured by Female Sexual Function Index (FSFI), which is above 23, and Female Sexual Distress Score Revised (FSDSR), whose score is &lt; 11. Result: In 4 years period, there were 6 cases of MRKH underwent neovagina (1 used sigmoid and 5 used amnion) at Dr Soetomo Hospital. All of them had a satisfying anatomical and sexual function. Even though neovagina operation significantly reduces sexual distress, but it does not necessarily mean alleviate as seen by the high FSDSR score. Neovagina using amnion has faster operation time and cheaper with the same length of hospital stay than sigmoid neovagina. Sigmoid neovagina has a better vaginal length, lubrication and no need dilatation after operation, but it has higher complication risk. Conclusion: The Neovagina technique should be used at Soetomo Hospital depends on patient wishes and circumstances. For those who have strong financial support and are not willing to do manual dilatation, they should use the sigmoid neovagina, while those who are able to do manual dilatation, then the amnion neovagina is a good choice.Keywords: Neovagina, MRKH, sigmoid, amnion, anatomic function

Endometriosis in MRKH cases as a proof for the coelomic metaplasia hypothesis?

A diagnosis of endometriosis is based upon the histological identification of endometrial tissue at ectopic sites which are commonly located on the pelvic organs, the peritoneum and ovary. In rare cases, ectopic lesions can be found in other organs, such as kidney, bladder, lung or brain. Diagnosis is achieved by laparoscopic intervention followed by histological confirmation of endometriotic tissue. Prevalence is estimated at approximately 10% in the general female population with many patients experiencing pain and/or infertility. Currently, the implantation hypothesis by Sampson is the most accepted hypothesis about the pathogenesis of endometriosis. However, the occurrence of endometriosis in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome who sometimes lack a uterus or endometrium seems to suggest metaplasia as a cause of endometriosis. A critical reevaluation of the literature about MRKH does not reveal conclusive evidence of an association of uterus/endometrium agenesis and endometriosis. Most often only MRI diagnoses of uterus/endometrium agenesis and only very rarely conclusive histological evidence of the endometriotic lesions are presented. In contrast, whenever biopsies were performed endometriosis always appeared together with uterus/endometrium remnants. Taken together, we suggest that MRKH patients only develop endometriosis if a uterus/endometrium is present which underscores and not contradicts the implantation hypothesis of Sampson.