Mayer-Rokitansky-Küster-Hauser Research Articles

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways

Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis.

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

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

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) variants have been definitively associated with a subtype of MRKH with hyperandrogenism (MIM: 158330). DNA from 148 clinically diagnosed MRKH probands across 144 unrelated families and available family members from North America, Europe, and South America were exome sequenced (ES) and by family-based genomics analyzed for rare likely deleterious variants. A replication cohort consisting of 442 Han Chinese individuals with MRKH was used to further reproduce GREB1L findings in diverse genetic backgrounds. Proband and OMIM phenotypes annotated using the Human Phenotype Ontology were analyzed to quantitatively delineate the phenotypic spectrum associated with GREB1L variant alleles found in our MRKH cohort and those previously published. This study reports 18 novel GREB1L variant alleles, 16 within a multiethnic MRKH cohort and two within a congenital scoliosis cohort. Cohort-wide analyses for a burden of rare variants within a single gene identified likely damaging variants in GREB1L (MIM: 617782), a known disease gene for renal hypoplasia and uterine abnormalities (MIM: 617805), in 16 of 590 MRKH probands. GREB1L variant alleles, including a CNV null allele, were found in 8 MRKH type 1 probands and 8 MRKH type II probands. This study used quantitative phenotypic analyses in a worldwide multiethnic cohort to identify and strengthen the association of GREB1L to isolated uterine agenesis (MRKH type I) and syndromic MRKH type II.

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

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

Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.

Редкий случай сочетания трихоринофалангеального синдрома и синдрома Майера-Рокитанского-Кюстера-Хаузера

Two forms of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome are recognized: isolated uterovaginal agenesis and associated with extragenital malformations, including several well-recognized syndromes. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant condition characterized by facial dysmorphism, ectodermal and skeletal features. TRPS comprises TRPSI (caused by a heterozygous pathogenic variant in TRPS1), TRPSII (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Genital anomalies occur particularly in TRPSII. We present a case of rare combination TRPSII with MRKH syndrome. Delayed diagnosis resulted to prolonged pain syndrome and repeated surgery. Recognition of genital anomalies in TRPS allows timely referral diagnosis and appropriate care by paediatrician and adolescent gynaecologists.

Mayer-Rokitansky-Kuster-Hauser syndrome type II with crossed fused renal ectopia: A rare case report

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis or aplasia of the uterus. Patients usually present with primary amenorrhea. MRKH can be isolated (type I) or accompanied by other malformations (type II) involving the kidney, skeletal, and vascular systems. Magnetic resonance imaging (MRI) is the mainstay of imaging modality in evaluating this syndrome. A 20-year-old woman presented with cyclic abdominal pain and primary amenorrhea. Secondary sexual characteristics and hormone evaluation were normal. Ultrasound and MRI were conducted and revealed no normal uterus structure with ectopic ovarium and crossed fused ectopic renal.

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

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

The Ozkan Technique in Current Use in Uterus Transplantation: From the First Ever Successful Attempt to Clinical Reality.

Uterus-related infertility affects 3-5% of all young women, including Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, hysterectomy, or severe Asherman syndrome. For these women with uterus-related infertility, uterus transplantation is now a viable option. We performed the first surgically successful uterus transplant in September 2011. The Donor was a 22-year-old nulliparous woman. After five failed pregnancy attempts (pregnancy losses), ET attempts were discontinued in the first case, and a search for underlying etiology was performed, including static and dynamic imaging studies. Perfusion computed tomography revealed an obstructed blood outflow, particularly in the left anterolateral part of the uterus. In order to correct blood flow obstruction, a revision surgery was planned. By laparotomy, a saphenous vein graft was anastomosed between the left utero-ovarian and left ovarian vein. Perfusion computed tomography performed after the revision surgery confirmed the resolution of venous congestion and a decrease in uterine volume as well. Following surgical intervention, the patient was able to conceive after the first embryo transfer attempt. The baby was delivered with cesarean section at 28 weeks' gestation due to intrauterine growth restriction and abnormal Doppler ultrasonography findings. Following this case, our team performed the second uterus transplantation in July 2021. The recipient was a 32-year-old female with MRKH syndrome, and the donor was a 37-year-old multiparous braindead woman due to intracranial bleeding. After the transplant surgery, the second patient experienced menstrual bleeding six weeks after the operation. Seven months after the transplant, in the first ET attempt, pregnancy was achieved, and she delivered a healthy baby at 29 weeks of pregnancy. Uterus transplantation from a deceased donor is a feasible option for treating uterus-related infertility. When confronted with recurrent pregnancy losses, vascular revision surgery via arterial or venous supercharging could be an option in order to deal with focal underperfused areas defined by imaging studies.

‘Distraction Vaginogenesis’: Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats

Vaginal atresia is seen in genetic disorders such as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, which can cause significant sexual dysfunction. Current treatments include surgical reconstruction or mechanical dilation of the vaginal canal. Mechanical dilation requires patients to be highly motivated and compliant while surgical reconstruction has high rates of complications. This study evaluated a novel vaginal expansion sleeve (VES) method as an alternative treatment for vaginal atresia. The proprietary cylindrical VES is a spring-like device consisting of polyethylene terephthalate helicoid trusses capped at each end with a fixed diameter resin cap for fixation within tissues. Following the development of the VES and mechanical characterization of the force-length relationships within the device, we deployed the VES in Sprague Dawley rat vaginas anchored with nonabsorbable sutures. We measured the VES length-tension relationships and post-implant vaginal canal expansion ex vivo. Vaginal histology was examined before and after implantation of the VES devices. Testing of 30 mm sleeves without caps resulted in an expansion force of 11.7 ± 3.4 N and 2.0 ± 0.1 N at 50% and 40%, respectively. The implanted 20 mm VES resulted in 5.36 mm ± 1.18 expansion of the vaginal canal, a 32.5 ± 23.6% increase (p = 0.004, Student t test). Histological evaluation of the VES implanted tissue showed a significant thinning of the vaginal wall when the VES was implanted. The novel VES device resulted in a significant expansion of the vaginal canal ex vivo. The VES device represents a unique alternative to traditional mechanical dilation therapy in the treatment of vaginal atresia and represents a useful platform for the mechanical distension of hollow compartments, which avoids reconstructive surgeries and progressive dilator approaches.

LAPAROSCOPIC PERITONEAL COLPOPOIESIS: LONG-TERM ANATOMICAL AND FUNCTIONAL OUTCOMES

Objective: To evaluate the long‑term anatomical and sexual outcomes of laparoscopic peritoneal colpopoiesis among women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Material and methods. We conducted a retrospective and observational single center study. Between January 2007 and May 2017, 16 patients with MRKH syndrome were treated with laparoscopic peritoneal colpopoiesis procedure. Results. The mean age of patients at the time of diagnosis was 18.8 years, and that at the time of hospitalization was 20.6 years. Concomitant congenital anomalies, such as urinary tract anomaly, were reported in six (37.5%) patients, various malformations of the cardiovascular system were reported in two (12.5%) patients. Mean surgery duration was 122.6 minutes (range 65 – 295 min); mean intraoperative blood loss was 75.3 ml (range 30 – 200 ml). Anatomical success, along with the absence of stenosis and reduction of the tissue flap was achieved in 100% cases. According to the female sexual function index (FSFI), results show good quality of sexual life. One of the patients, thanks to transvaginal donation of oocytes and surrogate motherhood, is raising her own child at the age of 3 years. Conclusion. Laparoscopic peritoneal colpopoiesis can be used as an effective and low-traumatic technique for creating a neovagina, taking into account the anatomical structure of the perineum.

A life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women’s experiences and negotiations of living with an underdeveloped uterus and vagina

Purpose Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the absence or underdevelopment of the uterus and upper part of the vagina. It is usually diagnosed during adolescence, and the present study investigates how women experience and negotiate to live with MRKH syndrome long-term. Methods From January to March 2021, eighteen Danish women with MRKH syndrome participated in semi-structured interviews via video conference. The mean time since diagnosis was 11.5 years. A thematic analysis using the life course framework as a theoretical approach was applied. Results The analysis identified the diagnosis as a turning point, that dramatically altered the women’s imagined futures. Not conforming to dominant social norms regarding sexuality and pregnancy meant that the women continuously managed and negotiated the meaning and impact of MRKH syndrome in relation to the five principles of the life course perspective: (1) Lifelong development, (2) Timing, (3) Human agency, (4) Linked lives, and (5) Historical time and place. Conclusion Using the life course framework contributed to a holistic understanding of life with MRKH syndrome by showing how the meaning and consequences of the congenital condition changed over time and in adaptation to gendered and age-related social norms and expectations. IMPLICATIONS FOR REHABILITATION The perceived meaning and impact of living with Mayer-Rokitansky-Küster-Hauser syndrome change over time, and women’s information and support needs thus change accordingly Sensitive, clinical communication is essential when discussing treatment options Online communities may provide support and reduce feelings of loneliness

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely unknown. Pathogenic variants in WNT4 and HNF1B have been confirmed in a small percent of individuals. A variety of copy number variants have been reported, but causal gene(s) remain to be identified. We hypothesized that rare structural variants (SVs) would be present in some individuals with MRKH, which could explain the genetic basis of the syndrome. Large molecular weight DNA was extracted from lymphoblastoid cells from 87 individuals with MRKH and available parents. Optical genome mapping (OGM) was performed to identify SVs, which were confirmed by another method (quantitative PCR, chromosomal microarray, karyotype, or fluorescent in situ hybridization) when possible. Thirty-four SVs that overlapped coding regions of genes with potential involvement in MRKH were identified, 14 of which were confirmed by a second method. These 14 SVs were present in 17/87 (19.5%) of probands with MRKH and included seven deletions, three duplications, one new translocation in 5/50 cells-t(7;14)(q32;q32), confirmation of a previously identified translocation-t(3;16)(p22.3;p13.3), and two aneuploidies. Of interest, three cases of mosaicism (3.4% of probands) were identified-25% mosaicism for trisomy 12, 45,X(75%)/46,XX (25%), and 10% mosaicism for a 7;14 translocation. Our study constitutes the first systematic investigation of SVs by OGM in individuals with MRKH. We propose that OGM is a promising method that enables a comprehensive investigation of a variety of SVs in a single assay including cryptic translocations and mosaic aneuploidies. These observations suggest that mosaicism could play a role in the genesis of MRKH.

Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report.

BACKGROUND Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a complex disorder of the female reproductive system that results in an absent uterus and vagina. MRKH syndrome can be an isolated anomaly (typical) or accompanied by other organ anomalies (atypical). Due to the similarity of symptoms with other congenital gynecological diseases, imaging modalities remain the most important tools in establishing the diagnosis by visualizing internal genital and detecting possible organ malformations. CASE REPORT We present a very rare case of a female with primary amenorrhea. Pelvic magnetic resonance imaging (MRI) showed the absence of a uterus and vagina with possible Mullerian remnants, as well as an incidental finding of a right ectopic kidney. Abdominal ultrasonography and chest X-ray showed that the patient also had situs inversus totalis. CONCLUSIONS MRKH syndrome may be associated with situs inversus totalis due to possible early embryologic malformations causing both conditions; however, the exact mechanism is still unknown. This report should serve as a more recent attempt to question whether situs inversus totalis is related to MRKH and to emphasize the importance of imaging modalities, especially MRI, in establishing the diagnosis of MRKH syndrome and the associated malformations.

Case Series of Mayer–Rokitansky–Küster–Hauser Syndrome: Analysis of 17 Cases

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.

Surgical Management of Mullerian Development Anomalies: 5 Years’ Experience of a Tertiary Care Center

Maldevelopment of the mullerian duct occurs in variety of forms and each anomaly is distinctive. This study was conducted to study clinical profile of patient with mullarian anomalies, different modalities used in diagnosis, and surgery performed to patients with mullerian duct anomalies. This was retrospective study of 23 patients who underwent surgery for different mullerian duct anomalies in last 5 years. There presenting problem, diagnostic modalities used, types of anomalies, other associated anomalies and different surgical management were evaluated. As per American Fertility society 6 patients belong to class I, 12 in class II and 5 in class III. Most of patients with Mayer Rokitansky Kuster Hauser (MRKH) syndrome had primary amenorrhea, patient of vaginal septum usually presents with cyclical abdominal pain, primary subfertility or dyspareunia. Patients with septate uterus had recurrent abortion 2D Ultrasonography (USG), Magnetic Resonance imaging (MRI) and hysteroscopy were modalities used for diagnosis of these defects. Patient of MRKH syndrome and vaginal agnesis were managed with vaginoplasty using amnion graft. Patients with septate uterus were managed with hysteroscopic septal resection. Septum resection was performed in all patients with transverse vaginal septum. Uterine anomalies are different groups of malformations with a broad spectrum of presentations. Management of each anomaly is individualized depending on the symptoms and fertility concerns.

A Case Report of Type-II Mayer-Rokitansky-Küster-Hauser Syndrome with Ovarian Inguinal Hernia Presenting with an Adnexal Mass

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder of the genitourinary tract seen in pediatric females. It is of 2 types. Type I has mullerian anomalies while Type II has associated anomalies. It may be associated with an inguinal hernia. The contents of the hernial sac are mostly the omentum or small intestine. Rarely, unusual contents like ovary and fallopian tubes may also be found in the hernia. The association of MRKH syndrome with ovarian hernia has been reported in a few cases in the literature. Our case is a similar rare case of a pediatric female of MRKH syndrome Type II with an inguinal hernia having an ovary as its content who presented with an adnexal mass.

Oestrogen-induced epithelial-mesenchymal transition (EMT) in endometriosis: Aetiology of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Endometriosis occurs when endometrial-like tissue forms and grows outside the uterus due to oestrogen-induced epithelial-mesenchymal transition in the female reproductive tract. Factors that suppress this event could become potential therapeutic agents against disease occurrence and progression. However, an overview of these studies is still lacking. This review assessed the impact of a number factors on oestrogen-mediated epithelial-mesenchymal transition in the emergence of several diseases in the female reproductive tract, primarily endometriosis. The association between epithelial-mesenchymal transition and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome was also investigated. Oestrogen, Wnt4 and epithelial-mesenchymal transition were chosen as keywords in Scopus, PubMed, and Web of Science searches performed on 28th June 2021. Study selection was refined to cancer-irrelevant, English, original articles published between years 2011-2021. The full-text assessment was carried out for topic-related articles after title and abstract screening. Included studies were summarised and assessed for their risk of bias using the Office of Health Assessment and Translation tool. In this review, 10 articles investigating oestrogen and epithelial-mesenchymal transition in the female reproductive tract were summarised and classified into two groups: seven studies under 'factor'-modulated epithelial-mesenchymal transition and three studies under 'factor'-manipulated oestrogen-induced epithelial-mesenchymal transition. The current evidence proposes that epithelial-mesenchymal transition is one of the prime causes of reproductive-related disease. This event could be mediated by distinct stimuli, specifically oestrogen and Wnt4 aberration. The results of this review suggest that oestrogen and Wnt4 participate in epithelial-mesenchymal transition in vaginal epithelial cells in MRKH syndrome, adopting from the theories of endometriosis development, which could therefore serve as a foundation for novel target treatment, specifically related to vaginal epithelialisation, to ensure better surgical outcomes.

Update on Mayer-Rokitansky-Küster-Hauser syndrome.

This review presents an update of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on its etiologic, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. The etiology of MRKH syndrome remains unclear due to its intrinsic heterogeneity. Nongenetic and genetic causes that may interact during the embryonic development have been proposed with no definitive etiopathogenesis identified. The proportion of concomitant extragenital malformations varies in different studies, and the discrepancies may be explained by ethnic differences. In addition to physical examination and pelvic ultrasound, the performance of pelvic magnetic resonance imaging is crucial in detecting the presence of rudimentary uterine endometrium. MRKH syndrome has long-lasting psychological effects on patients, resulting in low esteem, poor coping strategies, depression, and anxiety symptoms. Providing psychological counseling and peer support to diagnosed patients is recommended. Proper and timely psychological intervention could significantly improve a patient's outcome. Various nonsurgical and surgical methods have been suggested for treatment of MRKH syndrome. Due to the high success rate and minimal risk of complications, vaginal dilation has been proven to be the first-line therapy. Vaginoplasty is the second-line option for patients experiencing dilation failure. Uterine transplantation and gestational surrogacy are options for women with MRKH syndrome to achieve biological motherhood.

Unusual Torsion of Hematosalpinx in a Case of MRKH Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly of the female reproductive tract characterized by the absence of the upper two thirds of the vagina and the uterine cervix, and hypoplasia or complete aplasia of the uterus [1]. Typically, patients with MRKH syndrome present with primary amenorrhea while exhibiting normal secondary sexual characteristics and a normal female karyotype (46, XX) [2]. In fewer cases, they suffer from cyclic pelvic pain due to active endometrium in the hypoplastic uterine horns [3].