Search

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]

Objective To investigate the clinical efficacy of laparoscopic peritoneal vaginoplasty (Luohu Type II) in the treatment of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Methods A retrospective analysis was conducted on the clinical data of 221 patients with MRKH syndrome treated at the Third Affiliated Hospital of Shenzhen University (Shenzhen Luohu People's Hospital) between January 2020 and April 2024.The patients were aged between 17 and 35 years, with an average age of (22±8) years. All patients underwent laparoscopic peritoneal vaginoplasty (Luohu Type II). Surgical time, hospital stay, intraoperative blood loss, and postoperative clinical outcomes were analyzed. Results All 221 patients in this group successfully underwent laparoscopic peritoneal vaginoplasty. The surgical time ranged from 25 to 100 minutes, with an average of (35±23) minutes. The hospital stay ranged from 15 to 29 days, with an average of (20±5) days. Intraoperative blood loss was between 10 and 100 mL. The preoperative vaginal indentation depth was 0.5 to 3 cm, and postoperative vaginal depth was (10±2) cm. The difference was statistically significant (P

Objective This study aimed to evaluate the psychological health, quality of life, and sexual function in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome treated with biological graft vaginoplasty. Methods This study was a single-center prospective study, including 103 patients diagnosed with MRKH syndrome who underwent biological graft vaginoplasty at Peking Union Medical College Hospital between January 2018 and June 2023. Comprehensive phenotypic assessment information from patients' preoperative outpatient visits, postoperative data from their hospitalization and surgery, follow-up information at 3 months and 1 year postoperatively during outpatient visits,and the relevant questionnaires completed at the 1-year follow-up were collected. A total of 83 patients completed the 1-year follow-up and completed relevant questionnaires under informed consent, including the Patient Health Questionnaire-9 (PHQ-9) and General Anxiety Disorder-7 (GAD-7)for psychological health assessment, and the Short Form-12 (SF-12) for quality of life evaluation. Results were compared with general population data from the literature. Sexual function was evaluated at the 1-year follow-up,with 49 patients who had been sexually active in the past 4 weeks completing the Female Sexual Function Index(FSFI) questionnaire.The control group consisted of 49 sexually active, age-matched, and healthy females. Results The mean age of patients was 23.39±6.03 years, with an average postoperative follow-up time of 14.42±3.38 months.At the last follow-up, the mean vaginal length was 7.89±1.28 cm, and the mean vaginal width was 2.95±1.06 cm. One-year postoperatively, patients had significantly higher PHQ-9 scores compared to the general population (P=0.03),while GAD-7 scores showed no significant difference (P=0.5).The SF-12 physical component score(PCS)was significantly lower(P=0.002),whereas the mental component score(MCS)was significantly higher(P

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]

Objectives: The aim of the study was to find out what proportion of women with MRKHS have decided to become mothers and have children or would like to have children and consider various options for motherhood. Additionally, the survey aimed at identifying factors that might influence the women's decisions and opinions regarding adoption, gestational surrogacy (GS) and uterus transplantation (UTx). Material and methods: The study group consisted of 100 adult women with MRKHS who filled out questionnaires consisting of 56 questions. The survey was self-administered and anonymous. Results: Most of the study participants were under 30, lived in large cities (> 150 000 inhabitants) and declared to be heterosexuals in a steady relationship (p < 0.05). While 11 participants had children, 66 out of 89 childless women (74%) expressed a desire for motherhood, but as many as 80 surveyed women have felt pressured to have children. The number of participants for whom a biological relationship with offspring was significant and insignificant respectively equaled (p = 1.000). The majority of the study participants supported the process of legalizing GS in Poland (95 vs 4) yet would opt for commercial rather than altruistic GS (64 vs 31) (p < 0.05). Most respondents stated that UTx is consistent with their faith and conscience (91 vs 4) and found UTx ethical (88 vs 4) (p < 0.0001). Conclusions: The majority of Polish women with MRKHS express the need to become a mother, but only one in ten has a child. The women's interest in biological motherhood is significant. [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX). Patients typically present during adolescence with complaints of primary amenorrhea where the diagnosis is established with significant implications including absolute infertility. Most often cases appear isolated with no family history of MRKH syndrome or related anomalies. However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success in their search for genetic causes of MRKH syndrome. More recently, genomic investigations using chromosomal microarray and genome-wide sequencing have been successful in detecting promising genetic variants associated with MRKH syndrome, including 17q12 (LHX1, HNF1B) and 16p11.2 (TBX6) deletions and sequence variations in GREB1L and PAX8, pointing towards a heterogeneous etiology with various genes involved. With uterus transplantation as an emerging fertility treatment in MRKH syndrome and increasing evidence for genetic etiologies, the need for genetic counseling concerning the recurrence risk in offspring will likely increase. This review presents the advancements in MRKH syndrome genetics from early familial occurrences and candidate gene searches to current genomic studies. Moreover, the review provides suggestions for future genetic investigations and discusses potential implications for clinical practice. [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]

The Mullerian ducts give rise to the upper part of the female reproductive system, including the uterus, cervix, upper two-thirds of the vagina, and fallopian tubes, which undergo specific processes of development, fusion, and resorption. Any failure in this process will lead to Mullerian duct anomaly (MDA).We present a unique and complex case of MDA, signifying the wide variability and simultaneous existence of combined abnormalities in 1 patient, which do not always fit under a single or particular class from the known classification systems. Therefore, subclassifications may be necessary for each part alone (uterus, cervix, and vagina) or incorporating more than 1 class for a single case. It also shows the role of imaging in the diagnosis; considering that magnetic resonance imaging (MRI) is the standard modality for a detailed description of the reproductive system and its anomalies.

Abstract Background In the past, the primary treatment for MRKH syndrome (Mayer-Rokitansky-Küster-Hauser syndrome) with a functional primordial uterus was surgical removal of the functional primordial uterus. In rare instances, the endometrium of the functional primordial uterus is well developed, and surgical preservation of the functional primordial uterus provides the possibility of preserving reproductive function for these patients. Case presentation A 14-year-old female was diagnosed with type I MRKH syndrome with a functional primordial uterus through physical examination and imaging investigations. We freed the functional primordial uterus through laparoscopic surgery and excised a portion of the lower myometrium to create an outlet at a lower uterine segment, which we then intermittently anastomosed to the tip of the artificial vagina. The patient recovered well after the surgery, and a re-examination showed no significant abnormalities. Conclusion We were successful in preserving the functional primordial uterus using laparoscopic surgery in a patient with MRKH syndrome and connecting it to an artificial vagina through reconstructive surgery to ensure unobstructed menstrual drainage and preserve the reproductive potential of the patient.

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is an instructive story not only from a historical but also a gnoseological perspective. The mechanisms of embryogenesis as well as multiple aspects for correction of this syndrome remain enigmatic and unsolved. Here, we attempted to organize and detail striking issues related to MRKH syndrome.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital disorder syndrome characterized by failure of the uterine and vaginal organs to develop normally. The prevalence of MRKH is estimated to occur in about 1 in 5000 of female live births. A 25-year-old female patient comes to a general obstetric and gynecological polyclinic with complaints of not being able to menstruate at all since birth. There is a history of vaginal discharge but it is neither viscous nor had an odor. On ultrasound examination, the structure of the uterus and ovaries was not found in a normal place. On follow up MRI examination showed agenesis of the uterus and proximal two-third of the vagina accompanied by abnormal positioning of both ovaries, thus supporting to atypical form of MRKHS. The patient is not given drug therapy, but she was planned to transplant the uterine organs. This case report suggests MRKH syndrome can be characterized by ectopic ovaries and a uterus that is not fully developed and can also be accompanied by agenesis of the vaginal organs. Pelvic ultrasound is the main modality chosen to be performed in patients with symptoms of primary amenorrhea. When pelvic organs cannot be visualized properly, it will be performed MRI examination. MRI examination is known to have sensitivity and specificity up to 100% in diagnosing MRKH syndrome. This case report describes a 25-year-old woman with primary amenorrhea with MRKH syndrome. MRI is a sensitive and specific examination to confirm the diagnosis.

Background: Ovarian Germ Cell Tumors originate from primitive germinal cells and can be either malignant or benign. MRKH syndrome is characterized by congenital hypoplasia of the uterus and upper vagina and can occur due to disrupted fusion of the Mullerian ducts. Diagnosis of ovarian tumors in MRKH patients is difficult but can be characterized by abdominal pain and distended. Objective: The aim of this case report is to explain the diagnostic methods and interventions performed in patients with ovarian tumors and MRKH syndrome. Case Presentation: A 25-year-old female came to the hospital with complaints of a lower abdominal lump three months ago. It was followed by severe pain, weight loss, shortness of breath, and yellowish vaginal discharge. Physical examination showed anemia, obesity, and a vagina size of 7cm with a probe. Chest X-ray showed a mass in the mediastinum and pleural effusion, and USG showed suspicion of an ovarian cyst and uterine agenesis. Conclusion: Ovarian tumor with MRKH syndrome is a rare case. Diagnosis was based on the patient’s history, clinical findings, radiologic examination, and confirmed with laparotomy and histopathology. Regular examinations are recommended to prevent and identify genital tract problems and pelvic diseases in women, especially adolescents.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX). Patients typically present during adolescence with complaints of primary amenorrhea where the diagnosis is established with significant implications including absolute infertility. Most often cases appear isolated with no family history of MRKH syndrome or related anomalies. However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success in their search for genetic causes of MRKH syndrome. More recently, genomic investigations using chromosomal microarray and genome-wide sequencing have been successful in detecting promising genetic variants associated with MRKH syndrome, including 17q12 (LHX1, HNF1B) and 16p11.2 (TBX6) deletions and sequence variations in GREB1L and PAX8, pointing towards a heterogeneous etiology with various genes involved. With uterus transplantation as an emerging fertility treatment in MRKH syndrome and increasing evidence for genetic etiologies, the need for genetic counseling concerning the recurrence risk in offspring will likely increase. This review presents the advancements in MRKH syndrome genetics from early familial occurrences and candidate gene searches to current genomic studies. Moreover, the review provides suggestions for future genetic investigations and discusses potential implications for clinical practice.

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]

Introduction Meyer-Rokitanski-Küster-Hauser syndrome, also reffered to as Müllerian aplasia, is a congenital disorder characterized by agenesis or hypoplasia of the uterus and upper part of the vagina in female with normal female karyotype (46,XX). In these women the external genitalia have a normal structure and their internal endocrine organs function properly. Most often, this syndrome is diagnosed in adolescence due to primary amenorrhea. Material and methods This review was based on available data collected in the PubMed data base and Google Scholar data and published between 2011 and 2021. The research was done by looking through keywords such as:“Mayer-Rokitansky-Küster-Hauser syndrome”, “MRKH syndrome”, “uterine agenesis” and “primary amenorrhea”, "vaginal agenesis", "uterus transplantation". Conclusions Recent scientific achievements have shown how much can be changed in the lives of patients with MRKH syndrome. It should be remembered that this is a disease that needs treatment by specialists in many fields. Treatment should include not only medical side of problem but also should take care of psychical side of patients life. During the last 10 years several advances have been made in MRKH syndrome research, especially within the fields of genetics, non-surgical management, and uterus transplantation as the first available fertility treatment.

Study Question: Do sexual, relational, and psychological functioning of male partners of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome differ from male partners of women without MRKH syndrome?, Summary Answer: Male partners of women with MRKH syndrome did not significantly differ in sexual functioning but reported higher relational satisfaction and less anxiety than the control group., What Is Known Already: To date, only a few studies have reported occasionally about sexual, psychological, and relational functioning of partners of women with MRKH syndrome. The results seem to suggest sexual satisfaction in these men, contrary to the more often reported insecurities in women with MRKH syndrome surrounding sexuality and relationships., Study Design, Size, Duration: In this case-control study, 42 male partners of women with MRKH syndrome and 40 partners of women without the condition were enrolled., Participants/materials, Setting, Methods: All participants were recruited through women with MRKH syndrome and age-matched women without the condition who participated in a previous case-control study on sexual, psychological, and relational functioning. Participants live in a heterosexual relationship for at least in the last 6 months and have a basic understanding of the Dutch language. They were administered a set of online questionnaires to assess sexual, relational, and psychological functioning., Main Results and the Role of Chance: Partners of women with MRKH syndrome did not differ significantly in overall sexual functioning and had similar percentages of sexual dysfunction and sexual distress as the control group. Partners of women with MRKH syndrome reported significantly less relational dissatisfaction (P = 0.01; Cohen's d = 0.6) than partners of women without the condition. There was no significant difference in overall psychological functioning or the presence of clinically relevant anxiety and depression, but the men in the MRKH group had a significantly lower anxiety score (P = 0.01; Cohen's d = 0.6)., Limitations, Reasons for Caution: We were not able to reach a sample size needed for enough power to detect small to medium effect sizes. Confounding factors and selection bias cannot be excluded., Wider Implications of the Findings: The study offers new knowledge on a perspective that remains underexposed so far, which makes comparison to previous literature difficult. More research is needed to apply the results in clinical practice., Study Funding/competing Interest(s): This research was supported by the Dutch Scientific Society of Sexology (Nederlandse Wetenschappelijke Vereniging Voor Seksuologie). There was no involvement in the conduct of the research, and the funding was unrestricted. There are no conflicts of interest to declare., Trial Registration Number: N/A., (© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

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.

BackgroundAcute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, young AD patients without heritable connective tissue disease are relatively rare.Case presentationHerein, we report a case of a 25-year-old female diagnosed with ATAAD accompanied by undeveloped secondary sexual characteristics. Computed tomography angiography (CTA) showed that her AD involved the ascending and abdominal aorta. She had undergone thoracic endovascular aortic stent graft implantation in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries were found on CTA and transabdominal ultrasonography. Sex hormone detection revealed a low estrogen level. G-banded karyotyping analyses revealed a normal 46,XX karyotype. Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of ACTA2 c.773G>A and MYH11 c.5081A>G. MYH11 c.5081A>G was also found in her mother and younger brother. Copy number variations sequencing (CNV-seq) found an approximately 109.30 Kb duplication at chromosome 6p22.3 (Chr 6: g.24920238–25029535) with a copy number of 3. We performed emergent total aortic arch replacement with frozen elephant trunk surgery, and the patient recovered well after surgery. However, her abdominal AD was stilling progression during 6 months of follow-up.ConclusionTo our knowledge, we report the world's first case of early-onset recurrent AD combined with MRKH syndrome and 46,XX gonadal dysgenesis.

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]

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disease characterized by variable degrees of utero-vaginal agenesis. A diminished ovarian reserve and ectopic ovaries are common in these patients. The objective of this study is to highlight the issues relating to assisted reproduction in patients with MRKH syndrome who are candidates for Uterus Transplantation and to describe alternative methods to the classic transvaginal oocyte retrieval. Methods: In Italy, the Research Project for Uterus Transplantation from brain-dead donor started on 14/06/2018 (n. 1438/CNT2018). The potential recipients underwent to clinical evaluation, laboratory and instrumental tests to achieve eligibility for transplantation, ovarian stimulation and oocytes retrieval at the Obstetrics and Gynecology Unit of the Cannizzaro Hospital of Catania (Italy). A retrospective analysis of all patients affected by MRKH syndrome who are candidates for uterus transplantation was performed in order to highlight the problems encountered in assisted reproduction due to poor ovarian reserve or extra-pelvic gonads. Results: 15 of 64 patients (23%) were excluded after the first visit due to the poor ovarian reserve and/or ectopic ovaries. A 27-years old patient with MRKH syndrome type 2, with extra-pelvic ovaries and good ovarian reserve underwent ultrasound-guided and laparoscopically assisted transvaginal and transabdominal oocyte pick-up, with total retrieval of 12 oocytes and no short or long-term complications. Conclusion: Laparoscopically assisted oocyte retrieval is a feasible technique that can overcome some limitations for inclusion on waiting list for Uterus Transplantation, such as ectopic ovaries.

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]

The 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.

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]

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). Main body The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. Conclusion Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

Abstract 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.

This review aims to examine the use of vaginal stents in clinical practice, specifically for treating vaginal agenesis and related complications and problem associated with vaginal stents. Vaginal agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital disorder characterized by the uterus not developing or developing only partially. Vaginal stents are medical devices that preserve the structural integrity and patency of the vaginal canal after trauma or surgery. They play an important part in gynecological treatments such as post-radiation therapy, reconstructive surgery, and vaginal stenosis management. The review also discusses the primary applications of vaginal stents, such as preventing adhesions, healing mucosa, and maintaining patency. It also investigates frequent concerns associated with stent use, such as complications and the need for better designs. Vaginal stents are essential in a variety of therapeutic settings, providing major benefits in maintaining vaginal tissue and function. However, their use is fraught with complications, including the risk of infection, discomfort, and the possibility of inappropriate placement., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Intellectual property info: Copyright for PEG-coated vaginal stent is planned. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Deshmukh et al.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome., Competing Interests: All the authors declare that there are no conflicts of interest., (© 2024 The Author(s).)

Copyright of Turkish Journal of Obstetrics & Gynecology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare disorder characterized by congenital vaginal defects and uterine traces. Because of its rarity, standardized management for MRKH syndrome is unavailable. This study reviewed the management of the patients with MRKH syndrome in our institution. Methods: Using medical records, we retrospectively reviewed the surgical techniques, outcomes, postoperative management methods, and outpatient follow-up of 17 patients with MRKH syndrome in Keio University Hospital. Results: Of the 14 patients who requested vaginoplasty, 12 underwent surgery with Davydov’s modified procedure after the Frank method, and it took 17 months to 34 months (median two years) for the vaginal cavity to enlarge by 5–6 cm. The Frank method is a non-surgical dilation with instrumental stretching of the vaginal vestibular mucosa. Davydov’s procedure is a surgical vaginoplasty in which the vesicoureteral space is coated by the peritoneum. Although one patient lost 3800 mL of bleeding from the plexus vein and four needed to remove the prosthesis under anesthesia about one month after surgery, all patients achieved anatomic success with a vaginal cavity length of 6 cm or more and could have sexual intercourse with their sexual partners. However, two patients interrupted their preoperative hospital visits, and three were lost to follow-up postoperatively. Two of the three patients who did not accept vaginoplasty presented myoma at uterine trace and underwent myomectomy. Another one was scheduled for surgery through psychological support. Conclusions: Davydov’s modified procedure is effective, and dilating the vaginal cavity adequately using the Frank method before surgery is needed to ensure sufficient vaginal length with less perineum. During the operation, attention is required to care for the plexus vein. Comprehensive psychological support, providing appropriate information to the patient for mental maturity, and planning surgery according to their life stages are essential for successful treatment.

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

Uterine transplantation in Mayer-Rokitansky-Küster-Hauser (MRKH) patients with absolute uterine function infertility have added a new dimension and paradigm shift in the management of females born with rectovestibular fistula coexisting with vaginal agenesis. The author reviewed the relevant literature of this rare association, the popular and practical classifications of genital malformations that the gynecologists use, the different vaginal reconstruction techniques, and try to know what shall serve best in this small cohort of these patients lest they wish to go for uterine transplantation in future.

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]

STUDY QUESTION Is it feasible to perform uterus transplantations (UTx) in a tertiary centre in the Netherlands? SUMMARY ANSWER Considering all ethical principles, surgical risks and financial aspects, we have concluded that at this time, it is not feasible to establish the UTx procedure at our hospital. WHAT IS KNOWN ALREADY UTx is a promising treatment for absolute uterine factor infertility. It is currently being investigated within several clinical trials worldwide and has resulted in the live birth of 19 children so far. Most UTx procedures are performed in women with the Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, a congenital disorder characterized by absence of the uterus. In the Netherlands, the only possible option for these women for having children is adoption or surrogacy. STUDY DESIGN, SIZE, DURATION We performed a feasibility study to search for ethical, medical and financial support for performing UTx at the Amsterdam UMC, location VUmc. PARTICIPANTS/MATERIALS, SETTING, METHODS For this feasibility study, we created a special interest group, including gynaecologists, transplant surgeons, researchers and a financial advisor. Also, in collaboration with the patients' association for women with MRKH, a questionnaire study was performed to research the decision-making in possible recipients. In this paper, we present an overview of current practices and literature on UTx and discuss the results of our feasibility study. MAIN RESULTS AND THE ROLE OF CHANCE A high level of interest from the possible recipients became apparent from our questionnaire amongst women with MRKH. The majority (64.8%) positively considered UTx with a live donor, with 69.6% having a potential donor available. However, this 'non-life-saving transplantation' requires careful balancing of risks and benefits. The UTx procedure includes two complex surgeries and unknown consequences for the unborn child. The costs for one UTx are calculated to be around €100 000 and will not be compensated by medical insurance. The Clinical Ethics Committee places great emphasis on the principle of non-maleficence and the 'fair distribution of health services'. LIMITATIONS, REASONS FOR CAUTION In the Netherlands, alternatives for having children are available and future collaboration with experienced foreign clinics that offer the procedure is a possibility not yet investigated. WIDER IMPLICATIONS OF THE FINDINGS The final assessment of this feasibility study is that that there are not enough grounds to support this procedure at our hospital at this point in time. We will closely follow the developments and will re-evaluate the feasibility in the future. STUDY FUNDING/COMPETING INTEREST(S) This feasibility study was funded by the VU Medical Center (Innovation grant 2017). No conflicts of interest have been reported relevant to the subject of all authors. TRIAL REGISTRATION NUMBER n.a [ABSTRACT FROM AUTHOR]

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems. [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]

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by the absence of the uterus and the upper two-thirds of the vagina. It is a rare congenital anomaly with an incidence of 1 in 5000 female live births., Case Series: The authors describe three cases of females presenting with primary amenorrhoea who were diagnosed with MRKH syndrome. The patients were managed with McIndoe's vaginoplasty with neovagina creation with an amnion graft., Discussion: Management of MRKH syndrome involves vaginoplasty with neovagina creation. The approach to neovagina creation can be done surgically or non-surgically. Non-surgical creation of the vaginal cavity involves serial use of vaginal dilators, while there are several ways for surgical creation of neovagina. The modified Abbe-McIndoe procedure using amnion to create neovagina is a minimally invasive, rapid, and simple procedure with no risk of immune rejection because the amnion membrane lacks histocompatibility antigens. In addition, the graft is also readily available, storable, and inexpensive., Conclusion: Diagnosis of MRKH syndrome can be made when a young female with primary amenorrhoea and normal secondary sexual characteristics has agenesis of the uterus, and upper two-thirds of the vagina revealed on ultrasonography or magnetic resonance imaging. The patient can be offered treatment with vaginoplasty with neovagina creation., Competing Interests: All authors declare that they have no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)