MRKH Patients Research Articles

Mayer-Rokitansky-Küster-Hauser syndrome patients’ interest, expectations and demands concerning uterus transplantation

ObjectiveTo better understand patients’ conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MethodA web-based survey was conducted among MRKH patients via the French national association network from March to August 2020. The questionnaire comprised twenty-eight questions about their desire for parenthood, their condition's characteristics and previous reconstructive procedures, opinions and knowledge about UTx. ResultsAmong the 148 participants, 88 % reported a desire for parenthood, and 61 % opted for UTx as their first choice to reach this aim. The possibility of bearing a child and having the same genetic heritage were the main motivations. Once informed about the usual course of an UTx protocol, only 13 % of the participants changed their mind and 3 out of 4 of them opted for UT. ConclusionUterus transplantation seems to be the first option to reach motherhood in patients suffering from MRKH syndrome. The development of UTx programs could meet the demands of this already well-informed population.

Germ Cell Tumors Ovary “Dysgerminoma” with Mayer-Rokitansky-Kuster-Hauser Syndrome

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.

The long-term outcomes of vaginoplasty using acellular porcine small intestinal submucosa grafts in patients with Mayer-Rokitansky-Küster-Hauser syndrome: A case series.

To investigate the long-term outcomes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) patients undergoing vaginoplasty using acellular porcine small intestinal submucosa grafts (SIS). A case series. Seventy-eight MRKH syndrome patients and a post-SIS patient who delivered a baby following the world's first robot-assisted uterus transplantation. Mayer-Rokitansky-Küster-Hauser syndrome patients were grouped based on the postoperative time and the diagnosis-surgery interval. Outcomes of sexual function and psychological status were assessed using the female sexual function index (FSFI), self-rating scale of body image (SSBI) and self-acceptance questionnaire (SAQ). Anatomical outcomes were measured by clinicians. The primary outcome was restoration of sexual function, defined by an FSFI score in the 'good' range. Anatomical and psychological outcomes were also analysed. Sexual function was restored in 42.3% (33/78) of patients and the total FSFI score was 23.44 ± 4.43. Three factors (body defect, recognition of physical appearance and willingness to change physical appearance scores) in the SSBI and two in the SAQ decreased as the postoperative time increased. Based on the interval between diagnosis and surgery, the total SSBI score was lower in the short-interval group than in the long-interval group (7.25 ± 5.55 versus 12.04 ± 10.21, p=0.038). Nearly half of MRKH patients in our study had good long-term sexual function after SIS vaginoplasty. Sexual function and psychological status improved as postoperative time increased. In addition, reducing the diagnosis to surgery interval was associated with improved psychological function.

8697 Vaginoplasty in MRKH: A Single Center Experience

<h3>Study Objective</h3> The aim is to compare the efficacy of MacIndoe and laparoscopic Davydov's vaginoplasty to create neovagina in MRKH patients. <h3>Design</h3> This was a retrospective clinical study carried out at a tertiary care center in North India, done over a period of 2 years on 14 patients of MRKH. <h3>Setting</h3> Out of 14 patients, 9 underwent MacIndoe's vaginoplasty and 5 had Davydov's laparoscopic vaginoplasty. <h3>Patients or Participants</h3> All the patients with the diagnosis of MRKH who underwent vaginoplasty over a period of two years were included in the study and were analyzed for various parameters (Clinical characteristics, intra-operative findings and follow up) <h3>Interventions</h3> Out of total 14 patients of MRKH, 9 underwent MacIndoe's vaginoplasty and 5 underwent Davydov's laparoscopic vaginoplasty. <h3>Measurements and Main Results</h3> All patients presented with primary amenorrhea and vagina was absent in all the patients. Single kidney was present in 14.28 % (2/14) patients. Mean age at presentation (17.33 vs 16.66) was similar in both groups (p value=0.87) while age at operation (24.8 vs 21.7 years) was higher in Davydov's as compared to MacIndoe's group but the difference was not statistically significant (p value=0.27). Intra-operatively, uterus was absent in 57.14% (8/14) and hypoplastic in 42.85% of patients. Duration of surgery was more in Davydov's group 114 min (100-135 min) and in MacIndoe's 33.88 min (30-60 min) which is statistically significant (p value<0.001). Neovaginal length was similar in both group (6.7 cm vs 6.5 cm), p value=0.6. During an average follow up of 1-3 years, 35.71% (5/14) got married and out of those 80% (4/5) patients had no coital difficulty. <h3>Conclusion</h3> Both the procedure are simple, safe, and effective surgical methods for vaginal reconstruction, but the Davydov's procedure require minimally invasive surgical expertise as compared to MacIndoe's technique.

Clinical features of Mayer–Rokitansky–Küster–Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan

Mayer-Rokitansky-Küster-Häuser syndrome (MRKH) usually presents with primary amenorrhea after puberty. The present study clarified the clinical features of MRKH diagnosed at under 16years old. We conducted a questionnaire survey to determine the status of MRKH in Japan. Twenty-one MRKH patients were enrolled, and the patient background and clinical features were analyzed. The median age at the diagnosis was 2.6 [1.0-9.0]years. Three patients (14.3%) were diagnosed with type I MRKH, while 18 (85.7%) were diagnosed with type II. The associated anomalies included (some cases overlapped): anorectal malformation (ARM) (n = 13, 72.2%), renal malformation (n = 12, 66.7%), vertebral malformation (n = 11, 61.1%), esophageal atresia (n = 5, 27.8%), and cardiac malformation (n = 4, 22.2%). The comparison of patients with and without ARM revealed that patients with ARM were significantly younger than those without ARM at the time of the diagnosis (1.5 [1-2.6]years vs. 9.1 [8.2-11.7]years, p < 0.05). Associated ARM was the most frequent reason for the diagnosis of MRKH (n = 10, 47.6%). MRKH patients with some associated anomalies, especially ARM, were frequently diagnosed in preoperative imaging examinations or radical operation for ARM. Pediatric surgeons should pay close attention to female patients with ARM to prevent errors in the diagnosis of MRKH.

Imaging of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome on MRI Examination in dr. Soetomo Hospital.

Introduction: MRKH syndrome represents total or partial agenesis of the uterus and the two-thirds portion of the vagina, with 46XX karyotyping and normal bilateral ovaries and a Fallopian tube. Despite the uterus agenesis, the Mullerian remnants, including uterine buds, fibrous bands, and midline triangular soft tissue, are visible. Magnetic Resonance Imaging (MRI) is a non-invasive modality with 100% accuracy, which is ideal for depicting Mullerian duct anomalies. Materials and Methods: This is a descriptive study using a retrospective approach done in Dr. Soetomo General Hospital Surabaya and has obtained ethical permission. Our samples included 38 data from pelvic MRI acquired from medical records in Dr. Soetomo General Hospital between May 2018 and January 2022. Results: The age group between 21 and 30 constituted a significant proportion of MRKH patients. The location of the right and left uterine buds relative to the ovarium were identified repeatedly in the anterior caudal, appearing isointense in the T2WI sequence. The right fibrous band was evident in 35 patients (94.7%), while the left fibrous band appeared in 35 patients (92.1%). Midline triangular soft tissue was visible in 35 patients (92.1%), showing a hypointense signal, 35 patients (92.1%) with intrapelvic right and left ovaries, and one patient (2.6%) with left endometrioma. The proximal vagina was not apparent in all patients, while 31 patients (81.6%) were shown to have the distal vagina. Conclusion: MRI can yield accurate information in describing anatomical abnormalities in MRKH. Although the findings of this study have been satisfactory, further research entailing larger samples is necessary to correlate the MRI features and surgery outcomes to assess its reliability.

Postoperative outcomes of sigmoid colon vaginoplasty for vaginal agenesis: A randomized controlled trial

ObjectiveMayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is a rare disorder in women that is associated with vaginal agenesis and hypoplasia or loss of uterus. In this study we aim to study the outcome of sigmoid colon vaginoplasty among MRKH patients with vaginal agenesis. MethodsIn this randomized clinical trial study, from 2017 to 2021, 39 patients were reported to our center with vaginal agenesis as a result of MRKH. Patients were treated with sigmoid colon vaginoplasty and postoperative outcomes such as Female sexual function index (FSFI), depth of vaginal cavity, and postoperative complications were evaluated. ResultsThe mean age of the patients was 32.3 ± 2.3 years. 18 patients (46.2%) were diagnosed using MRI whereas 21 patients (53.8%) were diagnosed with exploratory laparoscopy. The mean vaginal depth before and after the surgery was 2.8 cm and 17.3 cm, respectively. One patient (2.6%) developed fistula, and peritonitis due to perforation of the vagina, 26 months after surgery, respectively. Of 10 patients who were sexually active after the surgery, all of these patients were sexually satisfied. The FSFI was 32 ± 3.9. ConclusionThe postoperative complications after sigmoid colon vaginoplasty were minimum and all the sexually active patients were sexually active. This method appears to be an effective for surgical treatment of vaginal agenesis.

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome.

In Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) patients who are scheduled for laparoscopic vaginoplasty and have a desire for biological motherhood, we propose that a concomitant laparoscopic oocyte retrieval for cryopreservation is performed. Oocyte retrieval is pursued at the beginning of the laparoscopy. Right and left 5 mm trocars are positioned, through which a 17 G ovum aspiration needle is used for puncture of the right and left ovaries, respectively. To facilitate exposure of the follicles, the ovaries are mobilized and held with laparoscopic forceps. When aspirating multiple follicles near each other, the needle tip is retained in the ovary to reduce the number of times that the ovarian cortex is transfixed and due to the inherent risk of bleeding. Subsequent steps are unchanged compared to the Davydov laparoscopic modified technique for vaginoplasty. Prior to surgery, controlled ovarian stimulation is performed with a gonadotropin hormone-releasing hormone (Gn-RH) antagonist protocol, and the concomitant procedure of oocyte retrieval and vaginoplasty is scheduled 36 h after the final follicular maturation trigger. Follicular fluid is collected in the same 10 mL sterile tubes used during transvaginal oocyte retrieval and transferred in a warming block (37 °C) to the assisted reproduction laboratory, where mature (metaphase II) oocytes are vitrified. In this case, a series of 23 women with MRKH, oocytes were successfully retrieved and cryopreserved in all patients; vaginoplasty was subsequently conducted without modifications, and the inpatient and outpatient postoperative care (day of urinary catheter removal, day of hospital discharge, dilator use, and comfort at follow-up) remained unaffected. One postoperative complication occurred in one patient (fever developing on day 5 post surgery and intraperitoneal fluid detection on transabdominal ultrasound) and resolved after conservative treatment. Rather than performing surgical vaginoplasty and delaying oocyte retrieval in MRKH patients, this approach combines both procedures in a single laparoscopy, thereby minimizing surgical invasiveness and anesthesiologic risks.

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Patients Treated with Laparoscopic Neovaginal with The Davydov Procedure with Epidural Anesthesia: A Case Report

Introduction. MRKH syndrome is characterized by incomplete or absent of vaginal and uterine agenesis. Currently there are no official guidelines on the management of MRKH syndrome. This case report is about the operative management in MRKH patients by neovaginal with laparoscopic Davydov procedure.&#x0D; Case presentation. A 26-year-old woman admitted that she had never had a period, the patient admitted that her breasts began to grow at the age of 13, and the patient was planning to get married, and refused to take further planning. The patient then came back to the RSMH urogynecology clinic after marriage, from the examination it was found that the pubic hole was ± 0.5 cm deep, speculum examination could not be done, the uterus could not be palpable from the rectal toucher. From the ultrasound examination, it was found that both ovaries were within normal limits and suspected uterine hypoplasia. Hormone tests were within normal limits, with the following values: LH 27.01 mIU / mL, FSH 57.08 mIU / mL, Estradiol 10 pg / mL, Prolactin 5.94 ng / mL. Patients with a history of atrial septal defect (ASD) and ventricular septal defect (VSD)&#x0D; Conclusion. Treatment of MRKH syndrome patients is usually complex and requires multidisciplinary counseling, therapy, and management, so it is hoped that it can help patients to make a functional vagina. Further research and collaboration from various multidisciplinary make pregnancy in patients with MRKH syndrome, not impossible, along with current technological and scientific developments, the selection of surrogate mothers, and uterine transplantation is an option.

Mayer-Rokytansky-kuster-Hauser Syndrome: A Rare Congenital Anomaly-Report of Two Cases

Mayer -Rokytansky-Kuster- Hauser Syndrome (MRKH) is a rare congenital anomaly, in which derivatives of mullerian duct is partially or completely absent whereas ovaries are normally present in a female patient. The patients usually present to physician with primary amenorrhea in adolescent period, when secondary sexual characteristics develops normally.Surgical correction permits normal sexual function and, possibly, reproduction with assisted techniques in MRKH patients. So,early diagnosis is very important to offer possible treatment options to the parents and patients and also to avoid psychological impact on patient. Here, we have described two cases of MRKH with different presenting complaints.&#x0D; BANGLADESH J CHILD HEALTH 2021; VOL 45 (1) : 48-50

Perspectives of 281 patients with Mayer-Rokitansky-Küster-Hauser Syndrome on uterine transplantation

To investigate the personal, ethical, and financial perspectives of individuals with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), a congenital uterine factor infertility condition, regarding uterine transplantation (UTx). Cross-sectional, quantitative survey. A 60-item anonymous electronic questionnaire was disseminated via social media sites. International members of the Beautiful You MRKH Foundation. None. The survey contained UTx educational materials followed by questions assessing participants' baseline knowledge, global perceptions, financial concerns, and ethical considerations regarding UTx. We received 281 responses, with a mean participant age of 28.2 ± 9.8 years. After reviewing the education material, most participants considered receiving a UTx (73%), believed that it should be an option for all women with uterine factor infertility (86%), and believed that it should be covered by health insurance (78%). Respondents perceived the benefits of the procedure to outweigh the risks (67%) and considered it to be an ethical procedure (82%). Almost one-half (49%) were willing to spend more than $10,000 out of pocket to receive the procedure. When asked to rank the risk of UTx to self, donor, and fetus in order of personal importance, 21% ranked their own safety last. There is a profound desire in the MRKH community for UTx to become more widely available and affordable. MRKH patients may represent a vulnerable population requiring special considerations for informed consent and rigorous evaluation for UTx. Providers caring for MRKH patients should be prepared to provide education about UTx and to thoughtfully engage with news and media outlets to communicate evidence-supported information.

Modified Vecchietti vaginoplasty using self-made single-port laparoscopy in Mayer-Rokitansky-Küster-Hauser syndrome

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

PERSPECTIVES OF 281 PATIENTS WITH MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME ON UTERINE TRANSPLANTATION

The aim of this study was to investigate the personal, ethical, and financial perspectives of individuals with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), a congenital uterine factor infertility condition, towards uterine transplantation (UTx). Cross-sectional quantitative survey analysis. A 60-item anonymous electronic questionnaire was advertised to international members of the Beautiful You MRKH Foundation via social media sites (Facebook, Instagram, and Twitter). The survey contained UTx educational materials followed by questions assessing participants’ baseline knowledge, global perceptions, financial concerns, and ethical considerations regarding UTx. We received 281 responses (88% completion rate), with a mean participant age of 28.2 ± 9.8 years. After reviewing the UTx education material, the majority of participants considered receiving a uterine transplant (73%), felt it should be an option for all women with uterine factor infertility (86%), and believed it should be covered by health insurance (78%). Respondents perceived the benefits of the procedure to outweigh the risks (67%) and considered it to be an ethical procedure (82%). Although the majority of participants have or would consider adoption (85%) and gestational surrogacy (81%) to have children, a large percentage indicated they would prefer to give birth to their own child (79%). Almost half of participants (49%) reported a willingness to spend over $10,000 out of pocket to receive a UTx procedure. When asked to rank the risk of UTx to self, donor, and fetus in order of personal importance, (21%) ranked their own safety last. The results of this analysis have important implications for the future of UTx. There is a profound desire in the MRKH community for UTx to become more widely available and affordable. MRKH patients may represent a vulnerable population requiring special considerations for informed consent and rigorous evaluation for UTx. Providers caring for MRKH patients should be prepared to educate about UTx and thoughtfully engage with news and media outlets to communicate evidence-supported information.

A Mayer-Rokitansky-Kuster-Hauser patient with leiomyoma and dysplasia of neovagina: a case report

BackgroundMost patients with congenital uterus and vaginal aplasia (i.e., Mayer–Rokitansky–Kuster–Hauser [MRKH] syndrome) have rudimentary pelvic uterine structures that contain smooth muscle. Although leiomyomas and dysplasia of vaginal mucosa are relatively common in the general population, they are rare in MRKH patients. Data on the vulnerability of neovaginas to HPV-associated dysplasia are limited.Case presentationA rare case of an MRKH patient with two gynaecological conditions detected during long-term gynaecological follow-up is presented. At the age of 21, the patient was treated for HPV-associated neovaginal dysplasia. At the age of 47, a pelvic leiomyoma was detected with transvaginal ultrasound and confirmed with magnetic resonance imaging.ConclusionA Pap smear or human papillomavirus testing is indicated in sexually active MRKH women. Uterine rudiments contain smooth muscle, which facilitates the development of oestrogen-dependent diseases, such as leiomyomas and adenomyosis. Although magnetic resonance imaging is recommended in cases of a pelvic mass, easily attainable and cost-efficient transvaginal ultrasound offers high diagnostic accuracy in patients with a surgically created neovagina and is suitable for the patients’ follow-up. Guidelines for the gynaecological follow-up of MRKH patients are warranted.

Study on depressive symptoms in patients with Mayer-Rokitansky-K\xfcster-Hauser syndrome: an analysis of 141 cases

BackgroundMayer-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.ResultsThe 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.ConclusionsThree-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.

Absence des organes génitaux internes chez la femme : enjeux et répercussions sur l’identité sexuelle

ObjectivesMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital malformation of the female internal organs. This disorder causes the uterus and vagina to be absent and affects one in 4,500 newborn girls. In a psychodynamic approach and in a qualitative and quantitative perspective, we aim to highlight some of the issues raised by the syndrome and its treatment, in particular the creation of a “neo-vagina”, in terms of the establishment of sexual identity among the women involved. MethodsOur research is based on an interdisciplinary, triangular process in which patient, doctor and clinical psychologist work together in specialized medical consultations. The data collection process also includes individual clinical research interviews between the young women and the clinical psychologist. The study involved seventeen patients. ResultsOn the basis of this study, it is possible to identify both fantasmatic and physical representations specific to MRKH patients. Most of these representations (summarized in a table) are common to the majority of the patients, some are specific to a few young women, and relate to their body image perception and their sexual investment. DiscussionThe study is based on single interviews, apart from two patients (ten interviews each). However, we are currently providing long-term follow-up. ConclusionIn most cases, there is a fetishist issue related to the phallic dimension of the neo-vagina and a high investment in bodily appearance and/or external signs of femininity.

Place de l’échographie dans la prise en charge du syndrome de Mayer-Rokitansky-Kuster-Hauser. Étude observationnelle de 2000 à 2017 au sein des hôpitaux universitaires de Strasbourg

ObjectivesMayer-Rokitansky-Küster-Hauser syndrome (MRKH) is the most common cause of congenital absence or severe hypoplasia of structures derived from Muller's canals including the upper vagina, uterus and fallopian tubes. The definition of this syndrome is the presence of normal female secondary sexual development criteria relating to the presence of functional ovaries associated with vaginal agenesis and uterine anomalies ranging from a rudimentary uterus to the total absence of uterus. The main clinical sign of MRKH is primary amenorrhea. Confirmation of diagnosis and identification of associated abnormalities are based primarily on imaging and Magnetic Resonance Imaging (MRI) is currently the gold standard in the comprehensive evaluation of MRKH syndrome. Therefore, this study evaluated the place of ultrasound in the diagnostic and therapeutic management of patients treated for MRKH syndrome. MethodsThis retrospective, single-center, observational study collected all patients in charge of diagnosis or treatment of MRKH Syndrome between January 2000 and June 2017 within the University Hospital Gynecology and Obstetrics Department of Strasbourg. The analysis of the medical files allowed the evaluation of ultrasound in the different stages of the patient's care. ResultsTwenty-one patients were included and 81% get an ultrasound, 38% of them had a referred ultrasound performed by a certified radiologist. Forty-eight percent of the patients had an MRI and every ultrasound provided a correct diagnosis. Sixteen patients received therapeutic management and only 50% of patients had preoperative MRI. ConclusionThe role of medical imaging is to define the extent of uterovaginal abnormalities for accurate diagnosis, describe any coexisting abnormalities, and provide a roadmap for surgical planning. The first-line examination is transabdominal ultrasound, a simple, non-invasive procedure. The use of MRI in our series did not bring any diagnostic surplus value. Despite the faster and easier access to MRI; ultrasound remains an indispensable tool in the diagnostic and therapeutic management of MRKH patients.

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

BackgroundMayer–Rokitansky–Küster–Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH research is aberrant methylation at imprinted loci. In fact, MRKH has been reported in patients with the imprinting disorder Silver–Russell syndrome.MethodsWe report on a rare patient with MRKH and SRS due to an ICR1 hypomethylation in 11p15.5. On the basis of this observation we screened a large cohort of MRKH patients (n > 100) for aberrant methylation at nine imprinted loci.ResultsWe failed to detect any epimutation, thus we conclude that imprinting defects at least at the currently known disease‐relevant imprinted loci do not contribute to the isolated MRKH phenotype. However, it cannot be excluded that altered methylation marks at other loci are involved in the etiology of MRKH.ConclusionThe molecular basis for MRKH remains unclear in the majority of patients, but future studies on the association between MRKH and ICR1 hypomethylation/SRS will to enlighten the role of epigenetics in the etiology of MRKH.

Hyperandrogenemia and ovarian reserve in patients with Mayer-Rokitansky-Küster-Hauser syndrome type 1 and 2: potential influences on ovarian stimulation.

This study aimed to analyze the hormone profiles, to detect the rate of hyperandrogenemia and to investigate the potential effect of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) on ovarian reserve, as reflected by the serum Anti-Mullerian hormone (AMH) levels. Clinical implications were analyzed by including our own experiences with three patients after ovarian stimulation in preparation for uterus transplantation. Serum samples of 100 patients with MRKHS (50 patients with MRKHS type 1 and 50 with type 2) were analyzed and compared to 50 individually age-matched healthy controls. Blood samples for hormone analyses were collected routinely during the clinical visit. The mean age was 20.0years for MRKHS type 1, MRKHS type 2 and healthy controls. Compared to healthy controls, there was no significant difference in AMH values in the MRKH patients. As shown in previous studies, the proportion of hyperandrogenemia without clinical symptoms was significantly higher in MRKHS type 1 (52%; p<0.001) and type 2 (56%; p<0.001) patients when compared to age-matched controls. In preparation for uterus transplantation, three patients were stimulated with FSH/hMG for mean 14.2days and the mean number of aspirated oocytes was 13.2 (3-22), while 8.3 (2-10) oocytes could be fertilized and cryopreserved. The mean fertilization rate was 51.2% (30-67%). The rate of hyperandrogenemia was significantly higher in MRKH patients compared to healthy age-matched controls. Though, ovarian reserve (AMH level) was not reduced compared to controls. Future studies are needed to identify optimal ovarian stimulation protocols as well as to implement a systematic multicenter reporting system.

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Laboratory- and community-based study. Academic medical centers. A total of 147 MRKH probands and available family members. DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. DNA sequence variants and CNVs; pedigree structural analysis. We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH.