Troubleshooting Vaginal Stents: A Critical Review of Common Problems and Solutions.

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.

Mayer-Rokitansky-Küster-Hauser Syndrome: A Case Report.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is described in females with a 46, XX karyotype and normal development of secondary sexual characteristics. The primary sexual characteristics are depicted by the congenital aplasia of the uterus and the upper two-thirds of the vagina. Based on the extent of malformations and association of extra-genital anomalies, it is categorized into type I and type II MRKH. The associated malformations seen include skeletal anomalies, renal anomalies, hearing defects, and, rarely, digital and cardiac anomalies. Herewith, we report a case of a two-year-old patient with urogenital anomalies on the left side diagnosed by imaging studies, which were suggestive of MRKH type II. For any child with urogenital anomalies with associated renal, skeletal, and hearing defects, we must suspect MRKH syndrome. The early detection of such anomalies will help in genetic counseling, management of fertility outcomes, and appropriate surgical management.

Mayer-Rokitansky-Küster-Hauser syndrome managed with McIndoe's vaginoplasty: a case series and literature review.

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.

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.

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.

Motherhood and attitudes towards motherhood in women with Mayer-Rokitansky-Küster-Hauser syndrome.

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.

Bilateral indirect ovarian inguinal hernia in a young female with type 1 Mayer-Rokitansky-Küster-Hauser syndrome: An extremely rare clinical context.

Key Clinical Message: Incidence of bilateral inguinal hernia encompassing bilateral ovaries in adult female is very thin and concomitant association with Mayer-Rokitansky-Küster-Hauser syndrome is out of ordinary. Along with surgical management of hernia, these females need multidisciplinary slant to manage gynecological, social, and emotional issues. Abstract: In mature females, bilateral ovarian inguinal hernias are a rarity. In this situation, ultrasonography is the basic adjunct to confirm the diagnosis. Mayer-Rokitansky-Küster-Hauser syndrome is typically linked to ovarian hernias in grown-up females. The most important ways to avoid problems are early diagnosis and surgical repair. A 25-year-old lady presented to our outpatient clinic with a history of swelling in bilateral inguinal region for 1 month. On the ultrasound examination, the right ovary was visualized in the right high inguinal canal, and the left ovary was seen at the level of deep inguinal ring with no visualization of the uterus in its normal anatomical position. The patient underwent bilateral inguinal exploration under spinal anesthesia, and herniated contents were successfully reduced back to anatomical locations. Clinical care for such a clinical condition must be multifaceted, involving intensive counseling, relocating the uterus, fallopian tube, and ovary to preserve fertility, and preventing consequences like incarceration and strangulation.

Mayer-Rokitansky-Kuster-Hauser syndrome complicated with giant mucinous cystadenoma and inguinal herniation: case report.

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.

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

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.

A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.

A case report of laparoscopic surgery for Mayer-Rokitansky-Küster-Hauser syndrome with preservation of functional primordial uterus.

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.

Mullerian ducts anomaly of 2 divergent uterine horns with cervicovaginal hypoplasia: Is it considered unclassified or under the spectrum of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome?

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.

Effectiveness of non-surgical interventions to improve health and well-being in women living with Mayer-Rokitansky-Kuster-Hauser syndrome: A systematic review.

AIM: The aim of this paper is to present the evidence on the effectiveness of non-surgical interventions to improve health and well-being in women living with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Systematic review guided by Preferred Reporting Items for Systematic Reviews checklist. DATA SOURCES: The search was conducted between June and September 2022 across the following databases: CINAHL, EMBASE, Medline, PsycINFO and Cochrane. Trial registries (clinicaltrials. gov, World Health Organization International Clinical Trials Registry Platform (ICTRP), Cochrane Controlled Trials Register-CCTR), Google scholar, dissertations, conference proceedings and reference lists of included studies were also searched. Corresponding authors, formal and informal MRKH groups were contacted to obtain any significant studies or reviews. REVIEW METHODS: Eligible were only English-language empirical studies of any time period. The review followed narrative synthesis. RESULTS: Twenty-three studies were identified that fit the inclusion criteria which included 1540 MRKH syndrome affected women. Four studies were on psychological interventions (n = 85) and 19 studies (vaginal dilation therapy n = 897, coital dilation n = 57) focused on non-surgical vaginal dilation as a measure to vaginal agenesis in MRKH syndrome. CONCLUSIONS: Clearly, vaginal dilation is a viable initial treatment option for women with MRKH syndrome. There is limited evidence that 'coital dilation' is an effective method of dilation for vaginal agenesis. The literature, however, supports the need for psychological intervention to improve health and well-being. IMPACT: Women with MRKH syndrome who require dilation can receive guidance and support from their healthcare providers, particularly sexual and reproductive health nurses, clinical nurse specialists and gynaecologists. From the point of diagnosis, clinical psychologists should be involved. As much as feasible, family and partner support can be encouraged. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

Atypical form of Mayer-Rokitansky-Küster-Hauser syndrome: A case report.

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.

Mayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report.

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is mainly characterized by congenital aplasia of the uterus and the upper two-thirds of the vagina in females with normal secondary sex characteristics and female karyotype (46,XX). MRKH syndrome is typically diagnosed due to primary amenorrhea in adolescence and is very difficult to diagnose in childhood. MRKH syndrome combined with central precocious puberty (CPP) is extremely rare. In this article, we report a case of MRKH syndrome with idiopathic CPP (ICPP). Case Description: A 7-year-old girl was presented with development of bilateral breasts for 1 year and relatively low body height. Based on her age, clinical signs, and laboratory findings, she was initially diagnosed with ICPP and treated with sustained-release gonadotropin-releasing hormone analog (GnRHa) therapy, and recombinant human growth hormone (rhGH) therapy from the 6th month onwards. During the follow-up, ultrasound and magnetic resonance imaging showed no uterus or uterine neck, an unclear vaginal structure, and normal ovaries. Her chromosome karyotype was 46,XX. A pediatric gynecological examination showed colpatresia. She was finally diagnosed with MRKH syndrome combined with CPP. After the GnRHa and rhGH treatment, her height became normal compared to her peers, and her bone age development was delayed. Conclusions: The present case suggests the possibility of concomitant CPP in patients with MRKH syndrome. The gonads and sexual organs of children with precocious puberty should be carefully monitored and assessed to exclude any sexual organ disorders.

Introducing Modified Technique of Combined Vaginal and Laparoscopic Approach for Creation of Neovagina.

INTRODUCTION AND IMPORTANCE: There are many methods described in the literature for creating a functional neovagina. However, the best method has yet to be determined. In our urogynecology training center, neovaginoplasty was usually performed by vaginal approach using modified McIndoe technique with amnion graft and >7 days hospitalization was required. However, we tried to combine both vaginal and laparoscopic modified technique of neovaginoplasty to improve the functional and surgical outcome as well as shortened hospital stay. CASE PRESENTATION: A 27-year-old woman came to our center with a chief complaint of primary amenorrhea and she was diagnosed with vaginal agenesis as part of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. She underwent neovaginaplasty using a combined vaginal and laparoscopic approach with autologous peritoneal graft. Patient was discharged the next day. The follow up result (6-24 months) was excellent with total vaginal length was 8 cm and FSFI score 34.5. CLINICAL DISCUSSION: The use of peritoneal graft using a laparoscopic approach for vaginal reconstruction was chosen in this case after proper counseling with the type of vaginal mucosal lining as the primary consideration. We combined our routine vaginal approach technique with laparoscopic approach to provide an autologous peritoneal graft and considered modifying the technique by extending the peritoneal dissection laterally to facilitate mobilization of the peritoneum to cover the whole surface of neovagina. CONCLUSION: Combined vaginal and laparoscopic modified technique of neovagina creation may present as treatment option for MRKH patients with excellent anatomical and functional result, minimal surgical complication and shorter hospital stay.

Case of mullerian agenesis presenting as bilateral inguinal hernia with left sided irreducibility in a 21 years old female: A rare case report.

INTRODUCTION AND IMPORTANCE: Presence of ovary in an inguinal canal in adult female is a rare presentation. Most of the cases are associated with congenital abnormalities of the female genital tract. The incidence of mullerian agenesis decreases with increasing age. The presence of bilateral inguinal hernia with ovaries as a content in an adult female is extremely rare. CASE PRESENTATION: A 21 year old female presented with bilateral groin swelling with associated pain on left side. On evaluation, there was inguinal hernia on both sides, of which left sided was irreducible. The ultrasonography of groin showed uterus and ovary as contents on left sided sac and ovary on the right side. Considering the severe pain and irreducibility on left side, the exploration of bilateral inguinal regions was done. On exploration, the biopsy was taken and the contents were repositioned back into the pelvis. CLINICAL DISCUSSION: The presence of ovary, uterus or both in the inguinal canal is extremely rare in an adult female. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by normal secondary sexual character with agenesis of uterus and vagina. Karyotype of individual female is essentially 46XX. Early diagnosis is essential to prevent the complications. The primary treatment of irreducible inguinal hernia is exploration and repositioning the contents back to pelvis if grossly normal and repair of inguinal hernia at earliest. CONCLUSION: A case of bilateral inguinal ovarian hernia with irreducibility in an adult female requires an urgent exploration. Delaying the intervention may result in obstruction, strangulation, and subsequent infertility.

Vaginal Reconstruction in Patients with vaginal agenesis: Options and Outcome: A single-center experience.

Objectives: To assess the postoperative functional, anatomical outcome and complications of various surgical procedures of vaginoplasty performed for patients with vaginal agenesis at our institution. Methods: This was a cross-sectional study of 14 patients (age range 17-40 years), who underwent vaginoplasty at the Aga Khan University Hospital, Karachi, Pakistan between January 2008 to December 2018. We aimed to assess the anatomical outcomes in terms of vaginal depth, axis and functional outcome as painless and satisfactory vaginal intercourse. Results: The mean age and mean body mass index (BMI) of the cases were 26.8 ± 8.1 years and 27.7143 ± 4.6 respectively. All were phenotypically female, with only two cases of XY genotype. Two patients were married on presentation. On evaluation, four cases had Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, three had androgen insensitivity syndrome (AIS), one case had congenital adrenal hyperplasia and six cases did not fit into any diagnosis. Associated renal anomalies were diagnosed in 14.3% of cases. The performed procedures were; Singaporean flap vaginoplasty (in four patients), Lee's, modified McIndoe and pull-through vaginoplasty (in three each patients), and Davydov vaginoplasty (in one patient). One patient was complicated by intraoperative bladder injury (p<0.63) and two cases by vaginal stenosis (p<0.43). The mean operative time was 120 minutes and the mean estimated blood loss was 200mls. Postoperatively, the vaginal length varied from 6-10 cm with a normal vaginal axis and satisfactory sexual activity. Conclusions: Vaginal agenesis is associated with several sexual disorders and despite the various surgical options available, the best procedure in terms of fewer complications and best surgical outcome is yet to be determined.

Hymenal Anomalies Interfering with Dilation in Women with Mullerian Agenesis: A Case Series.

BACKGROUND: Women with Mullerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), have aplasia or hypoplasia of the uterus and vagina. Regular use of dilators can successfully create a functional vagina in up to 95% of cases. We present 3 women with Mullerian agenesis who failed dilation therapy due to pain and were subsequently found to have hymenal anomalies. CASES: Patients presented at age 16 or 17 to initiate dilation. Initial attempts were discontinued due to pain. On examination, a septate hymen was identified in 2 patients and a microperforate hymen in 1 patient. All patients underwent hymenectomy and thereafter continued dilation with less discomfort. SUMMARY AND CONCLUSION: These cases illustrate the importance of recognizing and treating hymenal anomalies in women with Mullerian agenesis to prevent pain, leading to unsuccessful dilation.

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.

Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.

How does the experience of the medical encounter with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome impact women in Africa?

Introduction: the MRKH syndrome is a rare congenital malformation in women. As most rare conditions, this syndrome usually causes confusion in patients and even in physicians. The medical encounter of young girls with the syndrome is intertwined in a complex matrix of social, economic and cultural factors that only contribute in creating more confusion in the young girl. Methods: the study is qualitative and designed to describe the first encounter of women with the MRKH syndrome at the physician. To that effect, an interview guide was designed for in-depth interviews with 05 MRKH women from varied African countries (Cameroon, Côte-d'Ivoire, and Senegal) selected using the snowball technique. Results: findings from this study revealed that most women go to the hospital and return more confused as no clear information is given to them on their condition. Also, cultural, social and religious beliefs on the one hand seems to blur the physician's judgment to provide appropriate remedies like instrumental dilatation for rudimentary vagina, surrogacy for uterine infertility factor, adoption, etc. and on the other hand, these beliefs also act as a barrier for these young girls who are not strangers to the culture. Conclusion: the study suggests that, physicians give to the patients all necessary information for them to take elective decisions on their health. It also suggests that awareness should be raised on this condition.