Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.

Magnetic resonance imaging and clinical features of Mayer-Rokitansky-Küster-Hauser syndrome: A 10-year review from a dedicated specialist centre.

OBJECTIVE: To correlate the clinical history with imaging findings of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: Retrospective cohort study. SETTING: A UK IOTA and ESGO-certified tertiary referral centre for disorders of reproductive development. POPULATION: All patients with a diagnosis of MRKH and who had undergone an MRI pelvis between 1 January 2011 and 31 April 2021 were included. METHODS: MRI images were analysed by specialist gynaecological radiologists. Clinical data was extracted from an electronic patient record system. Statistical analysis was computed in R (version 4.1.2), R base stats package and ggstatsplot (v0.5.0). MAIN OUTCOME MEASURES: Clinical history and predefined imaging features. RESULTS: One hundred and thirty-four patients were included. Median age at MRI was 18 years (10-64 years). Half (48.2%) of women presenting had a history of pain, most often abdominal (84.6%) or vaginal (9.2%). Remnants were identified in 91.8% of women (n = 123). 4.5% of women had imaging features of endometriosis (n = 6). Women with a functional remnants were significantly more likely to experience pain (p < 0.001). Pain history was not strongly associated with ectopic ovarian position. Common gynaecological pathology such as endometriosis, ovarian cysts and fibroids were also identified. CONCLUSIONS: We identify that majority of women with MRKH will have uterine remnants with a connecting fibrous band, and an ectopic ovarian position 44.0% of cases. Abdominal pain was significantly associated with functional remnants on MRI. Further work is required to identify how other gynaecological pathology impacts women with MRKH.

Laparoscopic Sigmoid Vaginoplasty for the Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome in a Single Center: 20 years' Experience.

INTRODUCTION AND HYPOTHESIS: We investigate the feasibility, safety, and clinical therapeutic effect of laparoscopic sigmoid vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: We performed a retrospective case review cohort study of 56 patients with MRKHs undergoing laparoscopic sigmoid vaginoplasty in Wuhan Union Hospital between 2000 and 2020, and all patients were followed up. RESULTS: The median operating time was 165 min (120-420 min). The median hospital stay was 10 days (rang 7-15 days). A functional neovagina was created 11-15 cm in length and two fingers in breadth in all patients. No introitus stenosis was observed. No intra- or post-operative complications occurred. Two patients were lost to follow-up after 3 months of outpatient visits. Six patients had no intercourse and were required to wear a vaginal mold occasionally. None of the patients had complained of local irritation or dyspareunia. Patients who had post-surgery sexual intercourse were satisfied with their sexual life and the mean total Female Sexual Function Index (FSFI) score was 25.17 ± 0.63. The cosmetic results were excellent. CONCLUSIONS: The laparoscopic sigmoid vaginoplasty can achieve the goal of making a functional neovagina. The main advantage of this surgical technique is that it is minimally invasive and that there are fewer complications post-operation. It is an acceptable procedure for patients with MRKH syndrome.

Wharton-Sheares-George vaginoplasty: a safe and efficient technique in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

INTRODUCTION AND HYPOTHESIS: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition with an underdeveloped or absent vagina and uterus due to embryological growth failure of the Müllerian ducts. Many techniques have been described to construct a neovagina with an acceptable depth that allows penetrative intercourse. This is a step-by-step video tutorial on the Wharton-Sheares-George surgical technique for vaginoplasty in patients with MRKH syndrome. METHOD: With Wharton-Sheares-George vaginoplasty, the rudimentary Müllerian ducts are incrementally dilated by pushing Hegar dilators in the direction of the pelvic axis, and the resulting median raphe is then intersected using diathermy. As a result, a neovagina is created and an estriol-coated vaginal mold is inserted for 3 days. The patient receives comprehensive discharge instructions, a self-dilation program three times a day, and a monthly follow-up. RESULTS: A 3-month follow-up showed a high subjective degree of satisfaction with surgery and sexual satisfaction in both patients. CONCLUSION: Wharton-Sheares-George vaginoplasty is a safe and efficient technique for creating a neovagina for patients with MRKH syndrome.

Attitudes toward uterus transplantation. An option for motherhood?

INTRODUCTION: Uterus transplantation is a novel surgical procedure that allows women with absolute uterine factor infertility to carry a pregnancy and give birth. While previous studies have explored the attitudes of women with absolute uterine factor infertility toward uterus transplantation, none have surveyed and compare their views with other groups of interest (Morris syndrome women, relatives of Morris syndrome and Rokitansky syndrome women, infertile women and women of childbearing age) in the same sociocultural setting. The objective of this study was to evaluate attitudes and insights regarding uterus transplantation among women with Rokitansky syndrome and other groups of interest. MATERIAL AND METHODS: We designed a cross-sectional study including five groups of women: women with Rokitansky syndrome, women with Morris syndrome, relatives of women with Morris and Rokitansky syndrome, infertile women, and childbearing-age women. We conducted an online survey through the REDCap platform. The link was distributed by mail, telephone and in hospital outpatient visits. Baseline demographic information was assessed and information regarding motherhood preferences, attitude toward uterus transplantation, preferred uterus graft and perception of risk of the procedure was collected. RESULTS: We obtained a total of 200 responses, with a mean participant age of 34.5 years (±9.8). Overall, 17.5% (n = 35) were women with Rokitansky syndrome, 5.5% (n = 11) Morris syndrome women, 21.5% (n = 43) infertile women, 26.5% (n = 53) relatives of Morris and Rokitansky syndrome women and 29% (n = 58) childbearing-age women. 71.5% of women with Rokitansky syndrome would undergo uterus transplantations ahead of adoption and surrogacy with no statistically significant differences found between groups. Overall, more than one-half (58%) would prefer deceased over living donor. CONCLUSIONS: The results of this survey indicate that uterus transplantation is desired by most women who would benefit from the procedure, including those with either Morris syndrome or absolute uterine factor infertility. This was also the preferred option for motherhood if absolute uterine factor infertility was diagnosed among surveyed infertility patients or women of childbearing age with no known reproductive difficulties. Overall, most respondents indicated a deceased donor was preferable to a living donor and that patients may not be sufficiently aware of potential risks of uterus transplantation, highlighting the importance of adequate counseling by medical providers.

Successful Laparoscopic Management of Zinner Syndrome in a Pediatric Patient.

Zinner syndrome, a rare congenital anomaly affecting males, is characterized by atresia of the ejaculatory duct, seminal vesicle cysts, and ipsilateral renal agenesis. This case report details a 2-year-old boy successfully treated with laparoscopic excision of a dilated vas deferens and seminal vesicle cyst. The rarity of Zinner syndrome in pediatric patients underscores the importance of understanding its diagnosis and minimally invasive surgical management.

Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract.

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

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

Sigmoid neovagina prolapse treated with Altemeier procedure: case report and systematic review of the literature.

BACKGROUND: Bowel vaginoplasty is a surgical method for neovagina construction that, despite its advantages over other techniques, is still burdened by complications such as prolapse. The incidence of sigmoid neovagina prolapse (SNP) is difficult to determine, and there are no evidence-based recommendations for treatment. We present a case of SNP and a systematic review of previous cases. CASE: A 73-year-old woman presented with stage III prolapse of her sigmoid neovagina constructed 51 years prior. Dynamic pelvic MRI revealed that the majority of the prolapse was due to the mucosa's loss of support. Due to the presence of numerous pelvic adhesions, an alternative to the laparoscopic approach was evaluated by a multidisciplinary team which led to the patient being treated using a modification of Altemeier's procedure. SYSTEMATIC REVIEW: After PROSPERO Registration (CRD42023400677), a systematic search of Medline and Scopus was performed using specific search terms. Study metadata including patient demographics, prolapse measurements, reconstruction techniques, recurrence rates, and timing were extracted. Fourteen studies comprising 17 cases of SNP were included. Vaginal resection of the redundant sigmoid, comprising Altemeier's procedure, was the most definitive surgery, but it was also associated with recurrences in three cases. Laparoscopic sacropexy was the second most definitive surgery with no recurrence reported. CONCLUSION: Our review shows that the recurrence after correction of sigmoid neovagina prolapses is higher than previously reported. Laparoscopy colposacropexy appeared to be the best approach, but it's not always feasible. In these scenarios, a mucosal resection using the Altemeier's procedure is the most effective surgery.

Comparison of Sheares vaginoplasty, vaginoplasty using acellular porcine small intestinal submucosa graft and laparoscopic peritoneal vaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

INTRODUCTION AND HYPOTHESIS: The aim of this study is to compare the perioperative, anatomical and functional outcomes of patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), undergoing Sheares vaginoplasty, vaginoplasty using acellular porcine small intestinal submucosa (SIS) graft or laparoscopic peritoneal (Davydov) vaginoplasty. METHODS: In this retrospective study, a total of 117 patients with MRKHS undergoing creation of a neovagina from 2017 to 2020 were retrospectively investigated. Comparisons between continuous variables were performed using Student's t-test and between qualitative variables using chi-squared tests. RESULTS: The operative time, return of bowel activity and return to work were the longest in the laparoscopic Davydov group (P < 0.001). The total cost was the highest in the SIS graft group (P < 0.001). The length of the neovagina was 7.9 ± 1.2 cm in the Sheares group, 7.1 ± 0.8 cm in the SIS graft group and 8.1 ± 1.1 cm in the laparoscopic Davydov group. The difference in the length of the neovagina was significant (P < 0.001). There was significant difference in the duration of continuous mould wearing (P < 0.001). There were no significant differences in the total female sexual function index (FSFI) scores or in the satisfaction scores of the male partner among the three groups. CONCLUSION: Sheares vaginoplasty and the vaginoplasty using SIS graft caused less trauma and provided similar functional results to laparoscopic peritoneal vaginoplasty. However, the patients in the Sheares group and SIS graft group needed to wear the mould for a longer duration post-surgery. Sheares vaginoplasty can provide a valuable and economic alternative method for the creation of a neovagina in patients with MRKHS.

Evaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.

OBJECTIVE: In patients with Rokitansky syndrome, vaginal agenesis can be treated using various surgical techniques, and various factors can affect each surgery outcome in the long term. This meta-analysis aimed to evaluate sexual function outcomes in patients with Rokitansky syndrome after various surgery techniques. DATA SOURCES: Searches were conducted in Google Scholar, PubMed, Cochrane database, ScienceDirect, Web of Science, and ClinicalTrials.gov. Systematic searches were conducted on studies published until November 2022 (CRD42022370735). METHODS OF STUDY SELECTION: During the first stage of database scanning and reference check, 1820 results were identified, and an evaluation of the total 10 studies was finally conducted. The inclusion criteria involved selecting randomized controlled trials that focused on assessing sexual function after surgical treatment in patients of all ages with Rokitansky syndrome. TABULATION, INTEGRATION, AND RESULTS: EndNote version 20 software was used to organize and identify duplicate articles through screening. The Joanna Briggs Institute's critical appraisal tool was used to evaluate each study's quality for bias potential. The results showed that the total scores of female sexual functions in patients with Rokitansky syndrome after vaginoplasty were significantly lower than in healthy women (standardized mean difference, -0.233; p <.05; range, -0.376 to -0.090). The 6-domain analysis of the Female Sexual Function Index questionnaire revealed that lubrication (p <.05) and satisfaction (p <.05) were significantly lower in patients undergoing vaginoplasty. CONCLUSION: All surgical techniques to create a neovagina for patients with Rokitansky syndrome have successfully affected the sexual function outcomes. Considering all other factors affecting sexual function outcomes in the long term, more quantitative and qualitative studies are needed to assess sexual satisfaction in patients treated with surgical techniques.

Mayer-Rokitansky-Kuster-Hauser syndrome in a young female: diagnosis and treatment: a case report.

Mayer-Rokitansky-Kuster-Hauser Syndrome is a rare condition in which Müllerian system does not develop and ends up with rudimentary upper vagina and the uterus. As compared to normal physiology of the ovaries and puberty, the patients present with primary amenorrhoea a key clinical symptom. However, the exact aetiology of the disease is still unknown. A few reports considered environmental and epigenetic changes, hormonal imbalance, and cellular receptor abnormalities as possible risk factors associated with the disease. This case was reported at the Department of Family Medicine, The Indus Hospital, Karachi. A 24-year-old woman, married for eight months, presented with primary amenorrhoea and painful intercourse. Upon detailed clinical evaluation and relevant radiological and diagnostic investigation, an assessment, of Mayer-Rokitansky syndrome was made.

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

PURPOSE: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in females. Whole-gene deletion and loss-of-function variants in TBX6 have been identified in association with MRKHS. We aimed to expand the spectrum of TBX6 variants in MRKHS and explore the biological effect of the variant alleles. METHODS: Rare variants in TBX6 were called from a combined multiethnic cohort of 622 probands with MRKHS who underwent exome sequencing or genome sequencing. Multiple in vitro functional experiments were performed, including messenger RNA analysis, western blotting, transcriptional activity assay, and immunofluorescence staining. RESULTS: We identified 16 rare variants in TBX6 from the combined cohort, including 1 protein-truncating variant reported in our previous study and 15 variants with unknown effects. By comparing the prevalence of TBX6 variants in the Chinese MRKHS cohort vs 1038 female controls, we observed a significant mutational burden of TBX6 in affected individuals (P = .0004, odds ratio = 5.25), suggesting a causal role of TBX6 variants in MRKHS. Of the 15 variants with uncertain effects, 7 were shown to induce a loss-of-function effect through various mechanisms. The c.423G>A (p.Leu141=) and c.839+5G>A variants impaired the normal splicing of TBX6 messenger RNA, c.422T>C (p.Leu141Pro) and c.745G>A (p.Val249Met) led to decreased protein expression, c.10C>T (p.Pro4Ser) and c.400G>A (p.Glu134Lys) resulted in perturbed transcriptional activity, and c.356G>A (p.Arg119His) caused protein mislocalization. We observed incomplete penetrance and variable expressivity in families carrying deleterious variants, which indicates a more complex genetic mechanism than classical Mendelian inheritance. CONCLUSION: Our study expands the mutational spectrum of TBX6 in MRKHS and delineates the molecular pathogenesis of TBX6 variants, supporting the association between deleterious variants in TBX6 and MRKHS.

Neovaginoplasty with tilapia fish skin: a series of eleven cases.

INTRODUCTION AND HYPOTHESIS: Mayer-Rokitansky-Küster-Hauser syndrome affects about 1 in 5000 live female births and is associated with gonadal dysgenesis and primary amenorrhea. Neovaginoplasty has been established as an appropriate treatment option for patients who have failed or denied dilation therapy. In search of accessible, economical material with low risk of complications, the team proposed the use of Nile tilapia fish skin (NTFS) as an innovative biomaterial in the neovaginoplasty procedure for vaginal agenesis management. NTFS has noninfectious microbiota, morphologic structure comparable to human skin and high in vivo bioresorption. METHODS: In this descriptive study, the method offered an anatomical and functional neovagina to 11 patients efficiently, quickly and safely. Correct post-surgical dilation is still extremely important to keep the neovagina's size > 6 cm. RESULTS: Histological and immunohistochemical analysis demonstrated the formation of a stratified squamous epithelium with strong marking for cytokeratins, FGF and EGFR, similar to healthy adult vaginal tissue. CONCLUSIONS: Since NTFS is a low cost and easily accessible biomaterial, this technique proves to be an inexpensive therapeutic possibility for the health system with excellent advantages for patients.

Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases.

BACKGROUND: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD. Our five children add to the growing endocrine data base of MRKHS. CASE PRESENTATION: We retrospectively reviewed clinical data of 5 MRKHS patients from 2017 to 2020. The clinical features, hormonal profiles, radiological imaging and genetic analyses were collated. The age range of the 5 patients at diagnosis was 6.7-9.1 years. Four presented with premature thelarche, and one presented with short stature. External genitalia were normal in all patients. Gonadotropin-releasing hormone stimulation tests for the 5 patients revealed peak luteinizing hormone and follicular stimulating hormone levels of 3.57, 6.24, 11.5, 4.44 and 4.97 IU/L and 9.41, 16.7, 13.8, 14.2 and 10.3 mIU/mL, respectively. Growth hormone stimulation for one patient with short stature was consistent with GHD with a peak level of GH was 7.30 ng/mL. Imaging disclosed advanced bone age in four patients and no skeletal abnormalities in any of the patients. Ultrasonography of the abdomen revealed bilateral polycystic kidneys in one patient. Pelvic magnetic resonance imaging confirmed no uterus in five patients. All of the patients had a normal karyotype (46, XX). In one patient, whole-exome sequencing detected a deletion of 17q12(chr17:36,046,434-36,105,050, hg19) encompassing the HNF1B gene. CONCLUSIONS: We report the unusual co-occurrence of precocious puberty and GHD in patients with MRKHS, highlighting that abnormal puberty and growth development may represent initial unexplained manifestations. Whether the deletion of 17q 22 begat GHD is unclear.

Comparison of the modified laparoscopic Vecchietti and Davydov colpoplasty techniques in Mayer-Rokitansky-Küster-Hauser syndrome: A long-term follow-up analysis.

AIMS: To introduce and compare the modified laparoscopic Vecchietti and Davydov techniques for vaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Moreover, the long-term treatment of vaginal agenesis was followed-up. METHODS: This comparative retrospective cohort study enrolled a total of 53 women with MRKH syndrome. The patients underwent surgical creation of a neovagina including 32 patients who underwent the modified laparoscopic Vecchietti technique, and 21 patients who underwent the modified laparoscopic Davydov technique from January 2009 to February 2019. The perioperative parameters, complications, anatomical, and functional outcomes of the two groups were compared. Patients' sexual functions were evaluated over a long-term follow-up using the female sexual function index (FSFI) and the revised female sexual distress scale (FSDS-R). RESULTS: The medians (25th-75th) of the surgery duration for modified Vecchietti procedures was 50.0 (40.0-59.0) minutes, comparing to 135.0 (117.5-162.5) min for Davydov procedures (p < 0.001). The intraoperative blood loss was 20 (7.5-20.0) mL versus 50.0 (50.0-100.0) mL using the modified Vecchietti and Davydov approaches (p < 0.001), respectively. In the 39 follow-up cases, the lengths of the neovagina of the patients for Vecchietti group versus Davydov group were 7.9 ± 1.0 cm versus 8.6 ± 1.2 cm at 6 months after the vaginoplasty and 8.3 ± 0.7 cm versus 8.5 ± 0.9 cm after 2 years. There was no statistical difference in the FSFI and FSDS-R scores between the two groups. CONCLUSIONS: Both the modified Davydov and Vecchietti laparoscopic procedures successfully achieved optimal anatomic and functional outcomes in treatments of vaginal agenesis. The modified Vecchietti technique is relatively simpler than the modified Davydov technique.

Annual report of the Women's Healthcare Committee, Japan Society of Obstetrics and Gynecology, 2021.

Our committee was founded in 2010 with the goal of improving women's health. This academic year we focused on the following five activities for the second consecutive year: cooperation between the department of pediatric surgery and the department of obstetrics and gynecology for the treatment of persistent cloaca and Mayer-Rokitansky-Küster-Hauser syndrome in Japan; assessment of the educational training of women's healthcare advisers; increasing screening for breast and cervical cancer; conducting the Nationwide Survey of Prescribing Practices for the Treatment of Menopausal Symptoms; and preventing osteoporosis in survivors of gynecologic cancer. The activities of each subcommittee are detailed below. This report is based on the Japanese version of the annual report (Acta Obst Gynaec Jpn 2021;73(6):684-699).

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

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

Balloon vaginoplasty as a minimally invasive method in the management of vaginal aplasia.

OBJECTIVE: The aim of this article is to describe the management of vaginal aplasia and to introduce minimally invasive surgical procedures for neovagina formation. METHODOLOGY: Literature review obtained from studies and papers dealing with the management of congenital vaginal aplasia. CONCLUSION: Vaginal aplasia is a rare congenital anomaly, often in coincidence with congenital defects of the uropoietic system. Management nowadays favors non-surgical or minimally invasive surgical methods for neovagina formation. Saman et al introduced a new method of neovagina formation, namely balloon vaginoplasty. The advantage of the surgical procedure is traction using a soft Foley balloon, determining both the length and width of the neovagina. The method uses the expansion of the natural vaginal mucosa without the need for dissection of the vesicorectal space. The soft Foley balloon does not cause erosion of the vaginal mucosa.

Clinical pregnancy rates and experience with in vitro fertilization after uterus transplantation: Dallas Uterus Transplant Study.

BACKGROUND: The clinical pregnancy rates among patients with uterus transplantation have been reported by only a limited number of centers, and those centers have not used preimplantation genetic testing for aneuploidy in their protocol. OBJECTIVE: This study examined clinical pregnancy rates among women with absolute uterine-factor infertility undergoing in vitro fertilization using good-quality, expanded-blastocyst-stage, euploid embryos after uterus transplantation. STUDY DESIGN: This cohort observational study involved 20 women who underwent uterus transplantation over 3 years. Notably, 14 of these patients had successful transplants and were followed prospectively for a median of 14.1 months (range, 11-34.8 months). In vitro fertilization was performed before subjects underwent uterus transplantation, and good-quality expanded-blastocyst-stage euploid embryos were obtained and frozen for future embryo transfer. Interventions consisted of in vitro fertilization, preimplantation genetic testing for aneuploidy, uterus transplantation, and frozen embryo transfer. RESULTS: All 14 subjects with successful transplants underwent single embryo transfer of a warmed, good-quality, euploid, expanded blastocyst and had at least 1 documented clinical pregnancy within the uterus. In 71.4%, the first embryo transfer resulted in clinical pregnancy. The median time from successful uterus transplantation to first embryo transfer was 4.5 months; from successful uterus transplantation to first clinical pregnancy, 7.3 months; and from successful uterus transplantation to first live birth, 14.1 months. A total of 13 live births have occurred in 12 subjects. CONCLUSION: Women with absolute uterine-factor infertility who have surgically successful uterus transplantation and in vitro fertilization using preimplantation genetic testing for aneuploidy can achieve high clinical pregnancy rates. We have reduced the time interval from uterus transplantation to embryo transfer by at least 50% and the interval from uterus transplantation to clinical pregnancy by >6 months compared with previous studies. We believe our approach may shorten the time from transplant to clinical pregnancy and therefore decrease patient exposure to immunosuppressant therapies.