Long-term Results of Sexual Function and Body Image After Vaginoplasty With Acellular Dermal Matrix in Women With Mayer-Rokitansky-Küster-Hauser Syndrome

Sexual Health for People with Disabilities

Anatomic and Sexual Outcomes after Vaginoplasty Using Tissue‐Engineered Biomaterial Graft in Patients with Mayer‐Rokitansky‐Küster‐Hauser Syndrome: A New Minimally Invasive and Effective Surgery

Do sexual, relational, and psychological functioning of male partners of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome differ from male partners of women without MRKH syndrome? Male partners of women with MRKH syndrome did not significantly differ in sexual functioning but reported higher relational satisfaction and less anxiety than the control group. To date, only a few studies have reported occasionally about sexual, psychological, and relational functioning of partners of women with MRKH syndrome. The results seem to suggest sexual satisfaction in these men, contrary to the more often reported insecurities in women with MRKH syndrome surrounding sexuality and relationships. In this case-control study, 42 male partners of women with MRKH syndrome and 40 partners of women without the condition were enrolled. All participants were recruited through women with MRKH syndrome and age-matched women without the condition who participated in a previous case-control study on sexual, psychological, and relational functioning. Participants live in a heterosexual relationship for at least in the last 6 months and have a basic understanding of the Dutch language. They were administered a set of online questionnaires to assess sexual, relational, and psychological functioning. Partners of women with MRKH syndrome did not differ significantly in overall sexual functioning and had similar percentages of sexual dysfunction and sexual distress as the control group. Partners of women with MRKH syndrome reported significantly less relational dissatisfaction (P = 0.01; Cohen's d = 0.6) than partners of women without the condition. There was no significant difference in overall psychological functioning or the presence of clinically relevant anxiety and depression, but the men in the MRKH group had a significantly lower anxiety score (P = 0.01; Cohen's d = 0.6). We were not able to reach a sample size needed for enough power to detect small to medium effect sizes. Confounding factors and selection bias cannot be excluded. The study offers new knowledge on a perspective that remains underexposed so far, which makes comparison to previous literature difficult. More research is needed to apply the results in clinical practice. This research was supported by the Dutch Scientific Society of Sexology (Nederlandse Wetenschappelijke Vereniging Voor Seksuologie). There was no involvement in the conduct of the research, and the funding was unrestricted. There are no conflicts of interest to declare. N/A.

Do sexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome differ from a comparison group of women without the condition? In comparison to controls, women with MRKH with a non-surgically or surgically created neovagina did not differ in psychological and relational functioning but reported lower sexual esteem and more negative genital self-image, intercourse-related pain, clinically relevant sexual distress and sexual dysfunction, with sexual esteem levels strongly associated with sexual distress and sexual dysfunction. Studies on sexual functioning measured with standardized questionnaires in women with MRKH syndrome compared with women without the condition have yielded contradictory results. Factors associated with sexual functioning in this patient population have rarely been investigated. Between November 2015 and May 2017, 54 women with MRKH syndrome with a neovagina and 79 age-matched healthy women without the condition were enrolled in this case-control study. All participants had to be at least 18-years old and had to live in a steady heterosexual relationship. Women with MRKH syndrome were asked to participate by their (former) gynecologists at three university hospitals and by MRKH peer support group. Controls were recruited via advertisement in local newspapers and social media. Standardized questionnaires were administered to assess sexual functioning, sexual esteem, genital self-image and psychological and relational functioning. Women with MRKH syndrome with a surgically or non-surgically created neovagina reported significantly more pain during intercourse (P < 0.05, d = 0.5), but did not differ in overall sexual functioning from control women. More women with MRKH syndrome reported clinically relevant sexuality-related distress (P < 0.05, odds ratio (OR): 2.756, 95% CI 1.219-6.232) and suffered a sexual dysfunction (P < 0.05, OR: 2.654, 95% CI: 1.088-6.471) in comparison with controls. MRKH women scored significantly lower on the sexual esteem scale (SES) (P < 0.01, d = 0.5) and the female genital self-image scale (FGSIS) (P < 0.01, d = 0.6) than controls. No significant differences were found between the two groups regarding psychological distress, anxiety and depression, global self-esteem and relational dissatisfaction. Sexual esteem was significantly associated with the presence of clinically relevant sexual distress (ß = 0.455, P = 0.001) and suffering a sexual dysfunction (ß = 0.554, P = 0.001) and explained, respectively, 40% and 28% of the variance. Given the nature of the study focusing on sexual functioning, a potential selection bias cannot be excluded. It is possible that those women with the most severe sexual and/or psychological disturbances did or did not choose to participate in our study. The study results add new data to the very limited knowledge about psychosexual functioning of women with MRKH syndrome and are of importance for more adequate counseling and treatment of these women. The research was financially supported by the Dutch Scientific Society of Sexology (Nederlandse wetenschappelijke Vereniging Voor Seksuologie). The funding was unrestricted, and there was no involvement in the conduct of the research. There are no conflicts of interest to declare.

Sexuality after Laparoscopic Peritoneal Vaginoplasty in Women with Mayer-Rokitansky-Kuster-Hauser Syndrome

Laparoscopic vaginoplasty using a single peritoneal flap: 10 years of experience in the creation of a neovagina in patients with Mayer-Rokitansky-Küster-Hauser syndrome

STUDY QUESTIONIs there an increased prevalence of male microchimerism in women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, as evidence of fetal exposure to blood and anti-Müllerian hormone (AMH) from a (vanished) male co-twin resulting in regression of the Müllerian duct derivatives?SUMMARY ANSWERPredominant absence of male microchimerism in adult women with MRKH syndrome does not support our hypothesis that intrauterine blood exchange with a (vanished) male co-twin is the pathophysiological mechanism.WHAT IS KNOWN ALREADYThe etiology of MRKH is unclear. Research on the phenotype analogous condition in cattle (freemartinism) has yielded the hypothesis that Müllerian duct development is inhibited by exposure to AMH in utero. In cattle, the male co-twin has been identified as the source for AMH, which is transferred via placental blood exchange. In human twins, a similar exchange of cellular material has been documented by detection of chimerism, but it is unknown whether this has clinical consequences.STUDY DESIGN, SIZE, DURATIONAn observational case–control study was performed to compare the presence of male microchimerism in women with MRKH syndrome and control women. Through recruitment via the Dutch patients’ association of women with MRKH (comprising 300 members who were informed by email or regular mail), we enrolled 96 patients between January 2017 and July 2017. The control group consisted of 100 women who reported never having been pregnant.PARTICIPANTS/MATERIALS, SETTING, METHODSAfter written informed consent, peripheral blood samples were obtained by venipuncture, and genomic DNA was extracted. Male microchimerism was detected by Y-chromosome–specific real-time quantitative PCR, with use of DYS14 marker. Possible other sources for microchimerism, for example older brothers, were evaluated using questionnaire data.MAIN RESULTS AND THE ROLE OF CHANCEThe final analysis included 194 women: 95 women with MRKH syndrome with a mean age of 40.9 years and 99 control women with a mean age of 30.2 years. In total, 54 women (56.8%) were identified as having typical MRKH syndrome, and 41 women (43.2%) were identified as having atypical MRKH syndrome (when extra-genital malformations were present). The prevalence of male microchimerism was significantly higher in the control group than in the MRKH group (17.2% versus 5.3%, P = 0.009). After correcting for age, women in the control group were 5.8 times more likely to have male microchimerism (odds ratio 5.84 (CI 1.59–21.47), P = 0.008). The mean concentration of male microchimerism in the positive samples was 56.0 male genome equivalent per 1 000 000 cells. The prevalence of male microchimerism was similar in women with typical MRKH syndrome and atypical MRKH syndrome (5.6% versus 4.9%, P = 0.884). There were no differences between women with or without microchimerism in occurrence of alternative sources of XY cells, such as older brothers, previous blood transfusion, or history of sexual intercourse.LIMITATIONS, REASON FOR CAUTIONWe are not able to draw definitive conclusions regarding the occurrence of AMH exchange during embryologic development in women with MRKH syndrome. Our subject population includes all adult women and therefore is reliant on long-term prevalence of microchimerism. Moreover, we have only tested blood, and, theoretically, the cells may have grafted anywhere in the body during development. It must also be considered that the exchange of AMH may occur without the transfusion of XY cells and therefore cannot be discovered by chimerism detection.WIDER IMPLICATIONS OF THE FINDINGSThis is the first study to test the theory that freemartinism causes the MRKH syndrome in humans. The study aimed to test the presence of male microchimerism in women with MRKH syndrome as a reflection of early fetal exposure to blood and AMH from a male (vanished) co-twin. We found that male microchimerism was only present in 5.3% of the women with MRKH syndrome, a significantly lower percentage than in the control group (17.2%). Our results do not provide evidence for an increased male microchimerism in adult women with MRKH as a product of intrauterine blood exchange. However, the significant difference in favor of the control group is of interest to the ongoing discussion on microchimeric cell transfer and the possible sources of XY cells.STUDY FUNDING/COMPETING INTEREST(S)None.TRIAL REGISTRATION NUMBERDutch trial register, NTR5961.

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

A rare case of multiple leiomyomas on rudimentary uterus in a woman with Mayer Rokitansky Kuster Hauser (MRKH) syndrome: A challenging diagnosis and laparoscopic approach

Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators

Mayer Rokitansky Kuster Hauser (MRKH) syndrome is a rare disorder, characterized by the congenital absence of uterus and associated renal tract anomalies. The case presented with primary amenorrhea and primary infertility, despite development of normal female secondary sexual characteristics. CT scan revealed absent uterus, a solitary left sided pelvic kidney and a vesicovaginal communication that, on cystoscopy, revealed urogenital sinus anomaly manifesting as a common channel formed due to absent anterior wall of vagina and posterior wall of urethra. The urogenital sinus anomaly in MRKH syndrome has not been reported earlier.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single-gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population. We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant. Our study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high-density array-based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples. The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.

The primary cause of vaginal aplasia is the Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The infertility and the lack of normal sexuality associated with this syndrome have a profound impact on body image and self-esteem; one third of patients suffer from depression. In the last 2 decades, numerous techniques creating a neovagina in patients with MRKH syndrome have been investigated. Treatment methods used include both surgical and nonsurgical techniques of vaginal reconstruction. Among these, the nonsurgical Frank method must be considered as first-line therapy and used where possible. Because of the lack of prospective randomized trials, there is no consensus as to the best surgical treatment. The sigmoid graft, which uses a bowel graft to create a neovagina, was long considered a second-line treatment because of its associated morbidity. With advances in antibiotic prophylaxis and colorectal anastomosis, it can now be considered as first-line surgical therapy for MRKH. This prospective study assessed the functional and sexual outcome of sigmoid vaginoplasty in patients with MRKH syndrome. Participants were 59 women with the syndrome who had been referred to a university hospital between 1992 and 2010; 11 of these patients were treated by the Frank method, and 48 by sigmoid vaginoplasty. Two standardized questionnaires, the Female Sexual Function Index (FSFI) and the revised Female Sexual Distress Scale (FSDS-R), were used to evaluate the primary study outcome measures, functional results, and sexuality. Additional questions assessed body image perception, desire for motherhood, and signs of depression. Of the 40 patients (68%) who completed and mailed the questionnaire, 35 (73%) underwent surgery, and 5 (45%) were treated by the Frank method. There was no significant difference between groups in the mean total FSFI (P < 0.13) and FSDS-R (P < 0.72) scores: FSFI scores for the surgical group and Frank group were 28 ± 3.1 and 30.3 ± 6.2, respectively, and FSDS-R scores were 21.4 ± 12.1 and 18.4 ± 15.4, respectively. These findings show that sigmoid vaginoplasty provides nearly normal sexual function in patients with vaginal aplasia. Whatever technique is chosen, appropriate management requires a multidisciplinary team, because sexually related psychological distress persists in most patients.

Objective: to analyze the effect of a free dance protocol (pre and post 12-week intervention) on depressive symptoms, body image and sexual function in women undergoing breast cancer surgery. Methods: a randomized clinical trial, composed of 24 women undergoing surgery after the diagnosis of breast cancer, who were randomized into two groups: Free dance Intervention Group and Control Group. The free dance group received the intervention twice a week, 60 minutes per session, for 12 weeks. The control group maintained their routine activities during the 12 weeks. All participants were evaluated before and after the 12 weeks of intervention. Outcomes evaluated were depressive symptoms (Beck Depression Questionnaire - BDI), body image (Body Image after Breast Cancer questionnaire) and sexual function (Female Sexual Function Index questionnaire). Results: Body image showed a significant intragroup difference in free dance in the vulnerability domain (p=0.031), significant intergroup difference in the limitation domain (p=0.045) and concern with the body (p=0.035). Sexual function showed a significant intragroup difference in free dance in the desired domain (p=0.031) and a significant intragroup difference in the control group in the lubrication domain (p=0.021), however in a negative way. No differences were found for depressive symptoms. Conclusions: The practice of free dancing showed a positive effect, even if small, on body image and a negative effect on sexual function in women undergoing breast cancer surgery.

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is congenital disorder that affects the female reproductive system. MRKH syndrome is characterized by congenital aplasia of the uterus or utero-vaginal agenesis with normal ovaries and normal breast development. In MRKH syndrome females, the chromosome number is normal (46, XX). The MRKH patients suffer with primary amenorrhoea, sexual problems, and infertility along with depression. It is inherited in an autosomal dominant pattern with an incomplete degree of penetrance and variable expressivity in the patients in the family. The females patients also have to suffer psychosocial problems and mental trauma. The prevalence of MRKH syndrome is about 1 per 4500 female live births. MRKH syndrome can be either isolated (MRKH type I) or syndromic form (MRKH type II or MURCS association) which is associated withrenal, vertebral, and to a lesser extent with auditory and cardiac defects. MRKH type II or MURCS association is characterized by Müllerian duct aplasia, renal dysplasia, and cervical somite anomalies in the female patients. Material and Methods: In our study, a total of 50 patients having MRKH syndrome were enrolled for clinical investigation. The detailed clinical history of the patients were observed and diagnosed the patients by evaluating the reports of USG, MRI, and other tests including biochemical tests. The all associated abnormalities of vital organs including kidney, liver, heart, and other associated organs were recorded for each patient. Chromosomal abnormalities like aneuploidy, breakage, and translocation were ruled out by karyotyping. In the females patients, levels of hormones like luteinizing hormone (LH), follicle-stimulating hormone (FSH), Tri-iodothyronine (T3), Thyroxine (T4), and thyroid stimulating hormone (TSH) were estimated from serum or plasma. All the detailed information and history required for fertility aspects were interrogated to patients and documented their future plans related to fertility. Results: In this study, we enrolled a total of 50 MRKH female patients and studied their problems of psychosocial, sex, and infertility. Most of the cases (52%) of MRKH syndrome were diagnosed between the age of 18 to 22 years, while the age group of 14-18 years and 22-28 years were distributed with 20% and 28%, respectively. Prevalence of MRKH syndrome is higher 64% (32 cases) in rural location as compared to urban location 36% (18 patients). MRKH syndrome were diagnosed after marriage in 70% patients. The reason could be either hiding the clinical manifestations and symptoms that included the overlapping features of amenorrhoea (40 patients), infertility (30 patients), and sexual problems (35 patients). Out of 50 females, 30 patients were underwent surgery for McIndoe-Vaginoplasty. MRKH syndrome patients were counselled that resulted adoption of child in 5 couples (cases) and surrogacy in one case. In our study, 20 females were got married with a widower person who already have children.We also focused on the diagnosis the abnormalities in associated organs including renal, cardiac, skeletal, and auditory in female patients suffering with MRKH syndrome. Conclusion : MRKH syndrome is a rare syndrome in females but causes many psychosocial and fertility problems in patients. The counselling plays an important role in females suffering with MRKH syndrome.