Comparing the HER2 Status of the Primary Tumor to That of Disseminated Tumor Cells in Early Breast Cancer.

Breast cancer remains a leading cause of cancer mortality in women globally. Despite advancements in systemic therapy, the risk of distant recurrence persists even after such treatment and may be linked to disseminated tumor cells (DTCs). Variability in molecular characteristics between primary tumors (PTs) and distant metastases underscores the need to comprehensively understand metastatic pathways. This retrospective study investigated discrepancies between HER2 expression in PTs and DTCs and their implications for survival outcomes in 201 early breast cancer (EBC) patients. We found a significant association between HER2 expression in PTs and DTCs when classifying tumors as HER2-high/low/negative. Patients whose HER2 status was discordant between PTs and DTCs exhibited worse distant disease-free survival than those with concordant status. Multivariate analysis confirmed the HER2 status of DTCs as an independent prognostic factor for distant DFS. These findings emphasize the importance of assessing HER2 expression in DTCs and its potential implications for tailored therapy strategies in EBC. Furthermore, prospective trials are needed to validate these findings and explore targeted therapies based on the molecular characteristics of DTCs.

Uterine allograft removal by total laparoscopic hysterectomy after successful cesarean delivery in a living-donor uterus recipient with uterovaginal agenesis (MRKHS).

PURPOSE: To limit the burden of long-term immunosuppression (IS) after uterus transplantation (UTx), removal of the uterine allograft is indicated after maximum two pregnancies. Hitherto this has required graft hysterectomy by laparotomy. Our objective was to demonstrate, as a proof of concept, the feasibility of less traumatic transplantectomy by total laparoscopic hysterectomy (TLH). PATIENT: A 37-year-old woman with uterovaginal agenesis due to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who had undergone neovaginoplasty at age 19 years prior to living-donor (LD) UTx in 10/2019 at age 35 years gave birth to a healthy boy by primary cesarean section in 06/2021. During pregnancy, she developed impaired renal function, with bilateral hydronephrosis, necessitating early allograft removal in 09/2021 to prevent chronic kidney disease, particularly during a potential second pregnancy. METHODS: Transplantectomy by TLH essentially followed standard TLH procedures. We paid meticulous attention to removing as much donor tissue as possible to prevent postoperative complications from residual donor tissue after stopping IS, as well as long-term vascular damage. RESULTS: TLH was performed successfully without the need to convert to open surgery. Surgical time was 90 min with minimal blood loss. No major complications occurred intra- or postoperatively and during the subsequent 9-month follow-up period. Kidney function normalized. CONCLUSIONS: To our knowledge, we report the first successful TLH-based removal of a uterine allograft in a primipara after LD UTx, thus demonstrating the feasibility of TLH in uterus recipients with MRKHS.

The Clinical Relevance of the NATALEE Study: Application of the NATALEE Criteria to a Real-World Cohort from Two Large German Breast Cancer Centers.

The NATALEE study showed a significant benefit in invasive disease-free survival (iDFS) for patients with HR+/HER2- early breast cancer (eBC) at intermediate and high risk of recurrence who were treated with the CDK4/6 inhibitor Ribociclib in combination with endocrine therapy (ET). This retrospective study aims to apply the NATALEE inclusion criteria to a representative real-world cohort to estimate the proportion of HR+/HER2- breast cancer patients eligible for adjuvant Ribociclib therapy. Patients who underwent full surgical treatment for eBC between January 2018 and December 2020 at two large German university breast cancer centers (University of Ulm, University of Tuebingen) were included. Descriptive statistics were used to characterize the patient population eligible for Ribociclib treatment based on the NATALEE study's inclusion criteria. Out of 2384 enrolled patients, 1738 had HR+/HER2- eBC, of whom 43% (747/1738) met the NATALEE inclusion criteria. Of note, these patients were older, received less chemotherapy and presented with less advanced tumor stages compared to the NATALEE study cohort. Additionally, compared to the NATALEE study cohort, fewer patients had lymph node involvement (72.4% vs. 88.7%). Our analysis suggests that approximately 43% of all HR+/HER2- breast cancer patients will qualify for Ribociclib treatment. Given the numerous treatment options for patients with HR+/HER2- eBC, as well as the differences between the NATALEE cohort and patients in the real-world clinical setting, future analyses will be needed to determine which patients would benefit most from adjuvant CDK4/6 inhibitor treatment.

Absorbable versus non-absorbable sutures for vaginal mesh attachment during sacrocolpopexy: a randomized controlled trial.

INTRODUCTION AND HYPOTHESIS: The purpose of the study was to analyze anatomical and functional outcomes after sacrocolpopexy (SCP) for vaginal vault prolapse pelvic organ prolapse quantification (POPQ) II-III by random use of absorbable (Vicryl) and non-absorbable sutures (Ethibond) for vaginal mesh fixation. METHODS: This study was designed as a two-center randomized controlled study (RCT). The primary objective was to evaluate the anatomical outcome. Success was defined when the vaginal apex (point C; POPQ) did not descend more than 50% of the total vaginal length (tvl) during Valsalva. Patients completed a pelvic examination incorporating the POPQ and questionnaires (the German pelvic floor questionnaire and the PISQ-12 questionnaire) at baseline and 6 months postsurgery. Perioperative adverse events (AE) were recorded. Sample size calculations, based on a 10% non-inferiority limit required 100 participants per group, with power = 90%. RESULTS: In 190 out of 195 women (ETH group n = 96; VIC group n = 94) anatomical success was achieved. The relative risk of anatomical success failure in the VIC group versus the ETH group was 0.69, with a 95% confidence interval 0.12-4.02. The change in the symptom scores did not differ significantly between the ETH and the VIC group. In the ETH group, three suture penetrations into the vagina were observed, and none in the VIC group 6 months postoperatively. CONCLUSIONS: Anatomical success after SCP for vaginal vault prolapse POPQ II-III is not affected by suture type for vaginal monofilament mesh attachment. Moreover, we did not see any differences in functional outcomes between the two groups. Three suture penetrations into the vagina were observed in the ETH group, and none in the VIC group 6 months postoperatively.

Implementation of an Electronic Patient-Reported Outcome App for Health-Related Quality of Life in Breast Cancer Patients: Evaluation and Acceptability Analysis in a Two-Center Prospective Trial.

BACKGROUND: One in eight women is diagnosed with breast cancer in the course of their life. As systematic palliative treatment has only a limited effect on survival rates, the concept of health-related quality of life (HRQoL) was developed for measurement of patient-centered outcomes. Various studies have already demonstrated the reliability of paper-based patient-reported outcome (pPRO) and electronic patient-reported outcome (ePRO) surveys and that the 2 means of assessment are equally valid. OBJECTIVE: The aim of this study was to analyze the acceptance and evaluation of a tablet-based ePRO app for breast cancer patients and to examine its suitability, effort, and difficulty in the context of HRQoL and sociodemographic factors. METHODS: Overall, 106 women with adjuvant or advanced breast cancer were included in a 2-center study at 2 major university hospitals in Germany. Patients were asked to answer HRQoL and PRO questionnaires both on a tablet on-site using a specific eHealth assessment website and on paper. The suitability, effort, and difficulty of the app and self-reported technical skills were also assessed. Only the results of the electronically acquired data are presented here. The results of the reliability of the pPRO data have already been published elsewhere. RESULTS: Patients regarded the ePRO assessment as more suitable (80/106, 75.5%), less stressful (73/106, 68.9%), and less difficult (69/106, 65.1%) than pPRO. The majority of patients stated that ePRO assessment improves health care in hospitals (87/106, 82.1%). However, evaluation of ePROs depended on the level of education (P=.003) in the dimensions of effort and difficulty (regression analysis). The app was rated highly in all categories. HRQoL data and therapy setting did not show significant correlations with the app's evaluation parameters. CONCLUSIONS: The results indicate that ePRO surveys are feasible for measuring HRQoL in breast cancer patients and that those patients prefer ePRO assessment to pPRO assessment. It can also be seen that patients consider ePRO assessment to improve hospital health care. However, studies with larger numbers of patients are needed to develop apps that address the needs of patients with lower levels of education and technical skills.

A retrospective analysis of perioperative complications associated with retropubic tension-free vaginal tape in 960 women.

PURPOSE: The purpose is to analyse perioperative complications associated with the retropubic tension-free vaginal tape (TVT) procedure and their management. METHODS: This retrospective, monocentric cohort study included 960 women after retropubic TVT procedure performed by one surgeon from 2011 to 2016. Complications were identified up to 6 weeks after the procedure, divided into specific and general complications and classified based on the Clavien-Dindo (CD) Classification. A visit 6 weeks after the surgical procedure was attended by all patients. RESULTS: 77 complications, of which 74 occurred postoperatively and 3 intraoperatively, affecting 72 (7.5%) out of 960 women. Urinary retention and voiding problems were the most common complication. The mean age of women suffering complications was 3.4 years higher in comparison to the mean age of women without complications (p = 0.036). The Body Mass Index (BMI) of the group of women with perioperative complications had an average BMI which was 0.5 kg/m2 lower than the average BMI of the women without complications. 22 (12.8%) out of 172 women with recurrent stress incontinence had postoperative complications, of which 21 were related to the TVT. CONCLUSION: The retropubic TVT is a surgical procedure associated with a low number of perioperative complications, even in the group of elderly and overweight women, as well as in cases of recurrent stress incontinence.

Evaluation and management of obstetric genital fistulas treated at a pelvic floor centre in Germany.

BACKGROUND: Obstetric genital fistulas are an uncommon condition in developed countries. We evaluated their causes and management in women treated at a German pelvic floor centre. METHODS: Women who had undergone surgery for obstetric genital fistulas between January 2006 and June 2020 were identified, and their records were reviewed retrospectively. RESULTS: Eleven out of 40 women presented with genitourinary fistulas, and 29 suffered from rectovaginal fistulas. In our cohort, genitourinary fistulas were more common in multiparous women (9/11), and rectovaginal fistulas were more common in primiparous women (24/29). The majority of the genitourinary fistulas were at a high anterior position in the vagina, and all rectovaginal fistulas were at a low posterior position. While all genitourinary fistulas were successfully closed, rectovaginal fistula closure was achieved in 88.65% of cases. Women who suffered from rectovaginal fistulas and were at high risk of recurrence or postoperative functional discomfort and desired another child, we recommended fistula repair in the context of a subsequent delivery. For the first time, pregnancy-related changes in the vaginal wall were used to optimize the success rate of fistula closure. CONCLUSIONS: In developed countries, birth itself can lead to injury-related genital fistulas. As fistula repair lacks evidence-based guidance, management must be tailored to the underlying pathology and the surgeon's experience. Attention should be directed towards preventive obstetric practice and adequate perinatal and postpartum care. Although vesicovaginal fistulas occur rarely, in case of urinary incontinence after delivery, attention should be paid to the patient, and a vesicovaginal fistula should be ruled out. Trial registration Retrospectively registered, DRKS 00022543, 28.07.2020.

Fertility preserving management of early endometrial cancer in a patient cohort at the department of women's health at the university of Tuebingen.

PURPOSE: To investigate the oncologic and reproductive outcome of a conservative treatment with progestin agents in early-stage grade 1 endometrial cancer (G1EC), grade 2 endometrial cancer (G2EC) or complex atypical hyperplasia (CAH) in young premenopausal women. METHODS: Women treated for early-stage endometrial cancer or atypical hyperplasia of the endometrium with a conservative therapy between 2006 and 2018 were enrolled in this retrospective analysis. Progestin agents were orally administered on a daily basis for 3 months for at least one cycle. Endometrial tissue was obtained by hysteroscopy and Dilatation & Curettage (D&C) being performed before and after end of treatment. Therapeutic response was assessed by pathological examination. RESULTS: A total of 14 patients were included. After treatment with progestin agents, 11 of these patients initially showed a complete or partial response. Three patients with early-stage endometrial cancer did not respond. Of the three patients with initially diagnosed atypical hyperplasia, none showed any remaining disease later. Of the eight patients with initially diagnosed endometrial cancer, who had responded to first treatment, three patients were re-diagnosed with endometrial cancer later. One patient with initial endometrial cancer became pregnant but aborted in the 10th week. CONCLUSION: Due to its good efficacy, progestin agents offer a feasible therapeutic option in the fertility-preserving treatment of early-stage endometrial cancer in young premenopausal women. However, recurrence rate remains high. Therefore, a close follow-up is mandatory, also in responders. Patients should be informed of limitations and risks of conservative treatment. Yet after completion of family planning, hysterectomy should be performed.

Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of the uterus and the vagina. In women's health research, little is known as to how much care provision for patients with MRKHS takes into account their socio-demographic together with their clinical characteristics. This work examines the patients' socio-demographic characteristics, highlighting issues of inappropriate and deficient provision of care. METHODS: The study was carried out as part of the larger TransCareO project and included a group of N=129 MRKHS patients who underwent surgery between 2008 and 2012. Using a specially developed questionnaire, we analyzed MRKHS patients' data found both in the clinical documentation of the Department for Women's Health, University Hospital of Tübingen and the patient surveys of the Center for Rare Genital Malformations (CRGM/ ZSGF). Patients who took part in interviews were compared with non-respondents. RESULTS: Patient respondents and non-respondents did not differ as to the parameters of interest. In most cases, primary amenorrhea was reported as an admission reason. In 24% of patients, a medical intervention (hymenal incision or hormone treatment) already occurred before admission to the Center in Tübingen and proper diagnosis of MRKHS. About one third received in advance inappropriate treatment. During the therapy, more than half of the patients were in a solid partnership. 10% of the family anamneses documented the occurrence of urogenital malformations. CONCLUSIONS: Care provision for MRKHS patients is largely characterized by delayed proper diagnosis and in part, by inappropriate treatment attempts; there are also indications of regional differences. Anamnestic clues such as an asymptomatic amenorrhea or renal abnormalities of unclear origin still fail to result early enough in referral to a center on the basis of suspected MRKHS diagnosis. Urogenital malformations in the family are more common in patients than in the general population. For patients, a wide range of burdens are associated with the diagnosis. Abnormalities compared to their female peers occur, for instance, in the partnership status: MRKHS patients have more rarely a partner.

Anatomical and functional outcomes after hysterectomy and bilateral sacrospinous ligament fixation for stage IV uterovaginal prolapse: a prospective case series.

BACKGROUND: Aim of this study is to examine pelvic floor symptoms, anatomical results and patients' satisfaction after sacrospinous vaginal fixation for stage 4 pelvic organ prolapse. METHODS: All patients with stage 4 pelvic organ prolapse were treated with vaginal hysterectomy, native tissue cystocele and rectocele repair and bilateral sacrospinous vaginal fixation. Anatomical and functional outcomes according to the POPq classification system and the German version of the Australian pelvic floor questionnaire were assessed. Changes between baseline, first follow-up and second follow-up were assessed by the paired Wilcoxon rank test using R, version 3.5.1. RESULTS: 20 patients were included in the study. Scores in all four domains of the pelvic floor symptom questionnaire (bladder, bowel, prolapse, sexual function) were significantly improved at 6 and 12-months follow-up. One patient presented with a symptomatic stage 3 cystocele that needed a second surgical intervention and two patients needed surgery due to a de novo stress urinary incontinence. There were no perioperative adverse events and all patients reported full satisfaction after surgery. CONCLUSIONS: The vaginal approach with hysterectomy, native tissue repair and bilateral sacrospinous vaginal fixation seems to be a safe and effective method for the treatment of advanced stage POP, offering excellent relief in all pelvic floor symptoms. TRIAL REGISTRATION: ClinicalTrials.gov ( NCT02998216 ), December 20th, 2016. Prospectively registered.

Vaginal therapy of mild and moderate stress urinary incontinence using Er:YAG laser: a real treatment option.

PURPOSE: To evaluate the effectiveness of vaginal Er:YAG laser as treatment in patients with mild or moderate stress urinary incontinence. METHODS: The study was a prospective, non-randomised, single center study of 33 women treated with two Er:YAG laser applications on an interval of four weeks. Follow-up evaluations were performed 4 and 8 weeks and 6 months after the first vaginal Er:YAG laser application (4 weeks and 5 months after the second vaginal Er:YAG laser application, respectively). The subjective outcomes were assessed using the International Consultation of Incontinence Modular Questionnaire Short Form (ICIQ-SF) and medical history. Patients rated their quality of life on a scale from 0 to 10. RESULTS: The average quality of life (QoL) showed a significant improvement 5 months after both Er:YAG laser applications. The mean QoL score was 6.0 (SD 2.4) and improved to a mean of 7.6 (SD 1.8) (p = 0.004). The mean ICIQ-SF score changed significantly from 12.3 (SD 3.2, median 13, range 8-18) before treatment to 6.8 (SD 4.0, median 7, range 0-15) 6 months after treatment (p <0.001). 24 patients out of 32 (75%) would again choose to have this therapy performed and 25 patients of 32 (78%) would recommend the vaginal Er:YAG laser therapy to a friend. The rate of side effects was low and none of the patients needed a medical treatment. CONCLUSIONS: This study confirms that vaginal Er:YAG therapy can improve clinical and quality of life outcomes in patients with SUI.

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

PURPOSE: 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. METHODS: 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. RESULTS: The mean age was 20.0 years 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 14.2 days 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%). CONCLUSION: 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.

Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

INTRODUCTION: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus and the upper two-thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as the cause for MRKHS has existed, supported by previous findings of our group. The aim of the present study was to identify unknown genetic causes for MRKHS and to compare them with data banks including a review of the literature. MATERIAL AND METHODS: DNA sequence analysis of the oxytocin receptor (OXTR) and estrogen receptor-1 gene (ESR1) was performed in a group of 93 clinically well-defined patients with uterovaginal aplasia (68 with the isolated form and 25 with associated malformations). RESULTS: In total, we detected three OXTR variants in 18 MRKHS patients with one leading to a missense mutation, and six ESR1 variants in 21 MRKHS patients, two of these causing amino acid changes and therefore potentially disease. CONCLUSIONS: The identified variants on DNA level might impair receptor function through different molecular mechanisms. Mutations of ESR1 and OXTR are associated with MRKHS. Thus, we consider these genes potential candidates associated with the manifestation of MRKHS.

Management of device-related complications after sacral neuromodulation for lower urinary tract disorders in women: a single center experience.

PURPOSE: This study is aimed at presenting and discussing the device-related complication management during a 5-year period, of the sacral nerve modulation (SNM), in a tertiary-care university unit. METHODS: This is a retrospective chart review of all women, who received SNM in our department between May 2011 and May 2016. All two-stage procedures were performed by the same experienced surgeon and according to our strict protocol of patients' selection and follow-up. Data of perioperative and postoperative complications and their management were collected. RESULTS: The test stimulation was positive in 59 out of 64 patients (92%), who then received the permanent implantation after a mean test phase duration of 9 days. Mean overall follow-up was 16.5 (±10.9) months. We recorded 20 complications (31%) in 15 patients, after a mean follow-up time of 160 days. These comprise: lead migration (13.8%), infection (8.6%), pain (5.2%), wound healing disorders (5.2%) and lead fibrosis (10%). The event/patient ratio was significantly reduced from 0.6 in the beginning of our experience with SNM to 0.2 at the second period of the study (p = 0.005). All complications could be successfully resolved after surgical intervention without influence on the treatment effect. CONCLUSION: Complications after SNM are common and may require additional surgical intervention for full resolution but without affecting the treatment effect. Also, due to a learning curve, a lower events/patient ratio over time is to be expected.

Perivaginal benign masses: diagnosis and therapy in a series of 66 women.

PURPOSE: Benign perivaginal masses (PVM) are relatively rare. The aim of this study is, to create a higher awareness for these entities and to point out reliable diagnostics and an accurate treatment. METHODS: The medical records of the Department of Obstetrics and Gynecology Tuebingen were searched for number and type of urogynecological surgery in general, and a surgery, which took place particularly owing to benign PVM, over a period of 5 years. Diagnostics, treatment, histology and postoperative management were summarized and analyzed. Vaginal endometriosis manifestations were not considered. RESULTS: Between 2011 and 2015 a total number of 4.157 women underwent urogynecological surgery, 65 (1.6%) of these particularly because of benign PVM. The benign PVM in the patient cohort were composed as follows: urethral diverticula (UD), squamous epithelial inclusion cysts, periurethral cysts, Gartner's duct cysts, Müllerian cysts, pseudocysts, abscesses, epidermal inclusion cysts, angiofibromas, angiomyofibroblastomas, leiomyomas, solitary fibrous tumor and masses due to alloplastic materials. The PVM occurred singly or multiply. They were asymptomatic or accompanied by symptoms. Case history, clinical examination, pelvic floor sonography, urethrocystoscopy and MRI are essential tools for diagnostics. PVM simulated cystoceles and recto/enteroceles, were cause of an overactive bladder, dyspareunia, pain or were concomitants in women with stress urinary incontinence. The PVM were excised in 65 out of 66 cases, in one case an infected UD regressed completely under conservative antibiotic therapy. CONCLUSIONS: The awareness for benign PVM is helpful for their diagnostics and management. As secondary pathology, intradiverticular stones and malignancy have to be considered.

Use of complementary and integrative medicine among German breast cancer patients: predictors and implications for patient care within the PRAEGNANT study network.

PURPOSE: The present study aims to analyze a cohort of advanced breast cancer patients in Germany to assess their interest in complementary and alternative medicine (CAM) and patient's use of most frequent CAM methods. PATIENTS AND METHODS: Based on the PREGNANT real-time breast cancer registry which is a multicenter study in Germany, questionnaires of 580 patients with advanced breast cancer were evaluated. The implemented questionnaire for CAM asked for general interest in CAM and for patient's use of different CAM methods at present and in the past. The interest and application of CAM were analyzed for association with patients' characteristics such as tumor, patient, and therapy characteristics. RESULTS: In total, 436 out of 580 (75%) patients claimed to be interested in CAM. Further, interest in CAM is significantly correlated with younger age and absence of metastasis at the time of diagnosis. Multivariate analysis confirmed the patient's age and distant disease status at the time of diagnosis as related to interest in CAM. A total of 56.4% of patients applied any CAM method in the past. Moreover, with increasing lines of therapies, the more frequent use of CAM was observed. Hereby, praying, vitamin supplements, and other food supplements were most frequently applied. CONCLUSION: Our data demonstrate high overall interest and frequent use of CAM in advanced breast cancer patients supporting a strong demand of breast cancer patients for complementary counseling and treatments additional to the established cancer therapies. It is indispensable to implement counseling and evidence-based complementary treatments into clinical routine of cancer centers and to adapt postgraduate medical education, respectively.

The rectovaginal septum: visible on magnetic resonance images of women with Mayer-Rokitansky-Küster-Hauser syndrome (Müllerian agenesis).

INTRODUCTION AND HYPOTHESIS: Ongoing debate exists about whether the rectovaginal septum (Denonvilliers' fascia) is myth or reality. This study evaluates magnetic resonance images (MRI) of women with Müllerian agenesis for the presence of fascial layers between the rectum and the bladder to test the hypothesis that this layer exists in the absence of the vagina. METHODS: This is a secondary analysis of a study describing MRI aspects in women with vaginal agenesis before and after laparoscopic Vecchietti procedure. Study participants (n =16) had a multiplanar pelvic MR scan. Images were evaluated independently by two investigators (MH, JOLD) for the appearance of layers separate from the bladder and rectum in the area of interest, with characteristic anatomical features of the septum. RESULTS: Participants' mean age was 19.4±2.6 years ± standard deviation (SD). In 12 of 16 patients (75 %) a distinct layer between rectum and bladder was identified in either the axial(4/16; 25 %) or sagittal (12/16; 75 %) scan or both. Characteristic anatomical features included lateral attachment to the levator ani muscle, cranial fusion to the cul-de-sac peritoneum,and caudal insertion into the perineal body.Conclusions Three quarters of women with Müllerian agenesis have a visible layer between bladder and rectum. As none of the participants had a vagina, these results support the existence of a rectovaginal septum, separate from a vaginal adventitia.

A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.

The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm3 to 184.3 cm3 with a mean value of 7.9 cm3. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed.