The primary objective of this study is to assess the impact of hysteroscopic metroplasty on symptom relief, including dysmenorrhea, dyspareunia, and menstrual blood flow in women with partial uterine septa (U2a class). Additionally, the study aims to investigate potential correlations between clinical and ultrasonographic characteristics and changes in these symptoms. This was a prospective cohort study conducted at a single center, enrolling women who underwent hysteroscopic metroplasty between March 2022 and September 2023. Participants presented with dysmenorrhea, dyspareunia, and abnormal menstrual blood flow and had expressed a desire for pregnancy. Preoperative symptom severity was measured using a visual analog scale, ranging from 0 to 100. Preoperative three-dimensional transvaginal ultrasonography was performed to assess septal characteristics. A 12-month follow-up was conducted to evaluate changes in symptoms postoperatively. Exclusion criteria included alternative causes of pelvic pain, incomplete septum correction necessitating further surgery, and pregnancy or hormonal therapy within 12 months prior to or following the surgery. A total of 52 symptomatic patients with U2a uterine septa underwent hysteroscopic metroplasty, and data from 44 patients were analyzed according to the inclusion and exclusion criteria. Postoperative assessments revealed a significant reduction in dysmenorrhea (mean ± standard deviation: 50.2 ± 20.5 vs. 33.1 ± 20.4, P < 0.001) and dyspareunia (mean ± standard deviation: 41.4 ± 9.5 vs. 28.6 ± 24.5, P < 0.028). However, no significant changes were observed in menstrual blood flow. Hysteroscopic metroplasty in patients with partial uterine septa results in significant symptom relief, particularly for dysmenorrhea and dyspareunia. These findings underscore the potential benefits of metroplasty beyond reproductive outcomes. Further large-scale studies are necessary to confirm these results.

Placental attachment spanning from the anterior to the posterior uterine wall, resulting in the formation of two uterine cavities, presents a diagnostic challenge in obstetrics. Differential diagnoses include placental abruption, multiple gestations, placental variations, and uterine anomalies. Accurate prenatal identification is often difficult, especially when anomalies are not detected during early pregnancy. We report a rare case of a 27-year-old primigravid Japanese woman with a placenta spanning from the anterior to the posterior uterine wall, creating two cavities. At 35 weeks of gestation, ultrasound suggested an unusual placental position, with fetal parts located in separate cavities. At 37 weeks and three days, a cesarean section was performed for breech presentation. Intraoperatively, a partial uterine septum was palpated postplacental removal, with a planar fundus and no retroplacental hematoma. Postoperative ultrasound confirmed the diagnosis of a partial septate uterus. Although septate uterus is the most common uterine anomaly, it often remains undiagnosed in women without infertility. This case highlights the importance of considering uterine anomalies when placental morphology is atypical, especially in the absence of a prior diagnosis, as early recognition is crucial for appropriate perinatal management.

The primary aim of the study was to compare the incidence of congenital uterine anomalies in polycystic ovarian syndrome (PCOS) patients with the control group. This was a retrospective cohort study conducted at a tertiary center between January 2018 and January 2024. The study cohort included 297 patients, comprising 99 women with PCOS (PCOS group, 33.3%) and 198 healthy women whose partners had male factor infertility (control group, 66.7%). The uterine cavity was evaluated using hysterosalpingography (HSG) images according to the European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) consensus on the classification of female genital tract congenital anomalies and the American Society for Reproductive Medicine (ASRM) Müllerian anomalies classification guidelines. Demographic characteristics, physical examination findings, laboratory results, and HSG findings of the groups were compared. Analyses were performed with SPSS version 26.0. Variables that did not show a normal distribution were analyzed using the Mann-Whitney U-test. The chi-squared test and Fisher exact test were used to analyze categorical data. An inter-rater reliability analysis (Cohen's kappa) was performed for HSG findings. The results were reported with a 95% confidence interval (CI). The p-value of <0.05 was considered statistically significant. Of the whole study cohort, 7.7% had congenital uterine anomalies (CUAs) according to the ASRM criteria and 4.7% had CUAs according to the ESHRE/ESGE classification. CUAs were 5.7 times higher in the PCOS group than in the control group according to the ASRM criteria and 5.5 times higher in the PCOS group than the control group according to the ESHRE/ESGE classification system (17.2% vs. 3%, p < 0.0001; 10.1% vs. 2%, p = 0.003, respectively). Partial septate uterus (ASRM and ESHRE/ESGE classifications) was the most frequently detected CUA in the PCOS group (9.1% vs. 1.5%, p = 0.003). According to the ASRM classification, the partial septate uterus was followed by the arcuate uterus. It was 4.7 times more common in the PCOS group (7.1% vs. 1.5%, p = 0.01). We found that the frequency of CUA was higher among PCOS patients. Prospective studies are needed to examine anti-Müllerian hormone (AMH), serum sex steroids, and pregnancy complications in more detail to clarify pathophysiology and clinical implications.

The association between endometriosis and congenital uterine anomalies (CUAs) has been discussed for decades, but existing evidence about this association is scarce. Our study aimed to evaluate the prevalence of CUAs in women with endometriosis and to identify specific characteristics in women with both CUAs and endometriosis in a large cohort of patients. This is a retrospective single-center observational study conducted between January 2006 and June 2021. Swiss tertiary hospital. Women with histologically confirmed endometriosis at laparoscopy. All women included in this study underwent a preoperative 2-dimensional ultrasound by an experienced sonographer. In cases of suspected intrauterine pathology, bleeding disorders, or infertility, an additional hysteroscopy was performed. Of 1566 women with histologically confirmed endometriosis, 93 were diagnosed as having CUAs (5.9%). The most frequent malformations were U1c (arcuate uterus) (41 of 93, 44.1%), U2a (partial septate uterus) (19 of 93, 20.4%), U3b (complete bicorporeal uterus) (17 of 93, 18.3%), and U3a (partial bicorporeal uterus) (10 of 93, 10.8%). Women with both CUAs and endometriosis were more frequently diagnosed as having endometriosis revised American Society for Reproductive Medicine stage IV (p = .017) and presence of dysmenorrhea (p = .019) in comparison with women with endometriosis and a morphologically normal uterus. To the best of our knowledge, this is the largest endometriosis population examined for the prevalence of CUAs. According to our findings, the prevalence of CUAs in women with endometriosis does not seem to be higher than in the general population. However, women with CUAs and endometriosis are more likely to have severe endometriosis (revised American Society for Reproductive Medicine stage IV) and dysmenorrhea than patients with endometriosis without CUA.

Müllerian duct anomalies (MDAs) are congenital developmental disorders that present as a series of abnormalities within the reproductive tracts of females. Genetic factors are linked to MDAs and recent advancements in whole-exome sequencing (WES) provide innovative perspectives in this field. However, relevant mechanism has only been investigated in a restricted manner without clear elucidation of respective observations. Our previous study reported that 2 of 12 patients with MDAs harbored the CHD1L variant c.348-1G>C. Subsequently, an additional 85 MDAs patients were recruited. Variants in CHD1L were screened through the in-house database of WES performed in the cohort and two cases were identified. One presented with partial septate uterus with left renal agenesis and the other with complete septate uterus, duplicated cervices and longitudinal vaginal septum. The pathogenicity of the discovered variants was further assessed by molecular dynamics simulation and various functional assays. Ultimately, two novel heterozygous CHD1L variants, including a missense variant c.956G>A (p.R319Q) and a nonsense variant c.1831C>T (p.R611*) were observed. The variants were absent in 100 controls. Altogether, the contribution yield of CHD1L to MDAs was calculated as 4.12% (4/97). All three variants were assessed as pathogenic through various functional analysis. The splice-site variant c.348-1G>C resulted in a 11 bp sequence skipping in exon 4 of CHD1L and led to nonsense mediated decay of its transcripts. Unlike WT CHD1L, the truncated R611* protein mislocalized to the cytoplasm, abolish the ability of CHD1L to promote cell migration and failed to interact with PARP1 owing to the loss of macro domain. The R319Q variant exhibited conformational disparities and showed abnormal protein recruitment behavior through laser microirradiation comparing with the WT CHD1L. All these variants impaired the CHD1L function in DNA damage repair, thus participating in MDAs. The current study not only expands the mutational spectrum of CHD1L in MDAs but determines three variants as pathogenic according to ACMG guidelines with reliable functional evidence. Additionally, the impairment in DNA damage repair is an underlying mechanism involved in MDAs.