Human reproduction最新文献

{"title":"Reply: Insights into embryo transfer strategies from a medical imaging perspective.","authors":"Zheng Wang, Yuanyuan Wang, Rong Li","doi":"10.1093/humrep/deaf011","DOIUrl":"10.1093/humrep/deaf011","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"770"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term risk of endometrial cancer after assisted reproductive technology.","authors":"Mandy Spaan, Alexandra W van den Belt-Dusebout, Cornelis B Lambalk, Hester van Boven, Laura L van Loendersloot, Frank J M Broekmans, Joop S E Laven, Evert J P van Santbrink, Annemiek W Nap, Lucette A J van der Westerlaken, Ben J Cohlen, Astrid E P Cantineau, Jesper M J Smeenk, Minouche M van Rumste, Mariëtte Goddijn, Ron J T van Golde, Paul A M Meeuwissen, Jan P de Bruin, Gabriële M Ouwens, Miranda A Gerritsma, Michael Schaapveld, Curt W Burger, Flora E van Leeuwen","doi":"10.1093/humrep/deaf018","DOIUrl":"10.1093/humrep/deaf018","url":null,"abstract":"<p><strong>Study question: </strong>What is the risk of endometrial cancer after long-term follow-up in women treated with ART between 1983 and 2001 compared with women in the general population and subfertile women who did not undergo ART?</p><p><strong>Summary answer: </strong>The risk of endometrial cancer is not increased in women who underwent ART in the Netherlands between 1983 and 2001, neither compared with women from the general population nor compared with subfertile women not treated with ART.</p><p><strong>What is known already: </strong>Concerns have been raised that subfertility treatment may be associated with increased risk of endometrial cancer. However, published studies show inconsistent results regarding the effects of ovarian stimulation and specific subfertility diagnoses on endometrial cancer risk.</p><p><strong>Study design, size, duration: </strong>A nationwide historic cohort study (the OMEGA-cohort) was conducted to examine the risk of cancer in women after ovarian stimulation for ART. The OMEGA-cohort comprises 30 625 women who received ovarian stimulation for ART (ART group) in 1983-2000 and 9988 subfertile women not treated with ART (non-ART group). After a median follow-up of 24 years, endometrial cancer incidence was ascertained through linkage with the Netherlands Cancer Registry. Endometrial cancer risk in the cohort was compared with that in the general population using person-years analyses, and between the ART group and non-ART group using multivariable Cox regression analyses.</p><p><strong>Participants/materials, setting, methods: </strong>Detailed ART-treatment data were obtained from the medical records and complete information on parity and age at first birth was obtained through linkage with the Personal Records Database. Information on hysterectomy and endometriosis was collected through linkage with the Dutch Nationwide Pathology Databank (Palga). Data about lifestyle factors, including BMI, were obtained through a self-administered questionnaire.</p><p><strong>Main results and the role of chance: </strong>After a median follow-up duration of 24 years, 137 endometrial cancers were diagnosed. Endometrial cancer risk after ART was not significantly increased compared with that in the general population (standardized incidence ratio = 1.19; 95% CI = 0.97-1.44) nor compared with that in the non-ART group (multivariably adjusted hazard ratio = 1.11; 95% CI = 0.74-1.67). Risk of endometrial cancer did not increase with longer follow-up or with more ART cycles, and the risk within the cohort, did not vary by cause of subfertility (male, tubal, unexplained, and other). Irrespective of ART treatment, endometrial cancer risk was increased in obese women and women with endometriosis, but decreased among parous women and women who used oral contraceptives.</p><p><strong>Limitations, reasons for caution: </strong>Although the findings of the study are reassuring, the median age of the women at the end of follow-up ","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"739-749"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial replacement techniques to resolve mitochondrial dysfunction and ooplasmic deficiencies: where are we now?","authors":"Jessica Subirá, María José Soriano, Luis Miguel Del Castillo, María José de Los Santos","doi":"10.1093/humrep/deaf034","DOIUrl":"10.1093/humrep/deaf034","url":null,"abstract":"<p><p>Mitochondria are the powerhouses of cell and play crucial roles in proper oocyte competence, fertilization, and early embryo development. Maternally inherited mitochondrial DNA (mtDNA) mutations can have serious implications for individuals, leading to life-threatening disorders and contribute to ovarian ageing and female infertility due to poor oocyte quality. Mitochondrial replacement techniques (MRTs) have emerged as a promising approach not only to replace defective maternal mitochondria in patients carrying mtDNA mutations, but also to enhance oocyte quality and optimize IVF outcomes for individuals experiencing infertility. There are two main categories of MRT based on the source of mitochondria. In the heterologous approach, mitochondria from a healthy donor are transferred to the recipient's oocyte. This approach includes several methodologies such as germinal vesicle, pronuclear, maternal spindle, and polar body transfer. However, ethical concerns have been raised regarding the potential inheritance of third-party genetic material and the development of heteroplasmy. An alternative approach to avoid these issues is the autologous method. One promising autologous technique was the autologous germline mitochondrial energy transfer (AUGMENT), which involved isolating oogonial precursor cells from the patient, extracting their mitochondria, and then injecting them during ICSI. However, the efficacy of AUGMENT has been debated following the results of a randomized clinical trial (RCT) that demonstrated no significant benefit over conventional IVF. Recent developments have focused on novel approaches based on autologous, non-invasively derived stem cells to address infertility. While these techniques show promising results, further RCTs are necessary to establish their effectiveness and safety for clinical use. Only after robust evidence becomes available could MRT potentially become a viable treatment option for overcoming infertility and enabling patients to have genetically related embryos. This review aims to provide an overview of the current state of MRTs in addressing low oocyte quality due to mitochondrial dysfunction.</p>","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"585-600"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: Follicular activation, not ovarian rejuvenation: terminology matters, but outcomes remain unchanged after platelet-rich plasma administration.","authors":"Andres Reig, Nola Herlihy, Yigit Cakiroglu, Christine Whitehead, Bulent Tiras, Richard T Scott, Emre Seli","doi":"10.1093/humrep/deaf031","DOIUrl":"10.1093/humrep/deaf031","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"766-767"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced live birth rates following ART in adenomyosis patients: a matched control study","authors":"M Bourdon, A Mimouni, C Maignien, M Casalechi, P Vigano, C Bordonne, A E Millisher, C Patrat, L Marcellin, C Chapron, P Santulli","doi":"10.1093/humrep/deaf052","DOIUrl":"https://doi.org/10.1093/humrep/deaf052","url":null,"abstract":"STUDY QUESTION How does adenomyosis affect live birth rates (LBRs) in women undergoing ART compared to a matched control population? SUMMARY ANSWER Women with adenomyosis, matched with controls for age, blastocyst count, and top-quality blastocyst count, exhibited reduced LBR following IVF/ICSI treatment. WHAT IS KNOWN ALREADY Adenomyosis, a benign uterine disorder, is believed to hinder implantation due to anatomical, hormonal, and immune disruptions. Its precise impact on LBRs following ART, however, remains controversial, with studies presenting inconsistent outcomes. It is uncertain whether adenomyosis directly reduces ART success or if confounding factors such as age or embryo quality play a more significant role. STUDY DESIGN, SIZE, DURATION This observational study included women aged 18–42 years undergoing IVF/ICSI treatments with a freeze-all strategy from 1 January 2018 to 31 December 2022, each having at least one available blastocyst for transfer. The adenomyosis group consisted of patients with a confirmed diagnosis through pelvic MRI, interpreted by gynecologic radiologists. The control group included women without adenomyosis, who had idiopathic, tubal, and/or male factor infertility. PARTICIPANTS/MATERIALS, SETTING, METHODS A total of 285 women with adenomyosis were included. These patients were matched 1:1 with controls based on age, the number of cryopreserved blastocysts, and the number of top-quality blastocysts. The primary outcome was the cumulative LBR per patient following a single oocyte retrieval, with secondary outcomes including clinical pregnancy rate (CPR) and early miscarriage rate (EMR). Both univariate and multivariate analyses were conducted. MAIN RESULTS AND THE ROLE OF CHANCE In this study, 285 women with adenomyosis were matched with 285 controls. The mean age was 35.4 ± 3.3 and 35.5 ± 3.4 years, respectively, with an average of 3.5 ± 2.5 and 3.6 ± 2.6 cryopreserved blastocysts and 0.4 ± 0.7 and 0.4 ± 0.5 top-quality blastocysts, respectively. In the adenomyosis group, MRI revealed internal diffuse adenomyosis in 73.7% of patients, adenomyoma in 3.5%, and external adenomyosis lesions in 46.7%. The cumulative LBR was significantly lower in the adenomyosis group compared to controls (41.4% versus 51.9%; odds ratio = 0.65, 95% CI [0.47–0.91]; P = 0.012). Similarly, the CPR was reduced in the adenomyosis group (53.3% versus 63.9%; P = 0.011). No significant difference was found in the EMR. Multivariate analysis, adjusted for confounders such as freeze-all indication, AMH levels, BMI, infertility type, and ART procedure (IVF versus ICSI), identified adenomyosis as an independent risk factor for reduced LBR (OR = 0.7, 95% CI [0.4–0.9]). These findings indicate that adenomyosis is associated with lower ART success rates. LIMITATIONS, REASONS FOR CAUTION Patients included in this study were from a specialized referral center focusing on the management of endometriosis and adenomyosis, potentially introducing selection","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"58 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143745111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors for recurrent implantation failure as defined by the European Society for Human Reproduction and Embryology.","authors":"Can Wang, Youhui Lu, Miaoxian Ou, Lingxuan Qian, Yingying Zhang, Yuxin Yang, Lu Luo, Qiong Wang","doi":"10.1093/humrep/deaf042","DOIUrl":"https://doi.org/10.1093/humrep/deaf042","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;What are the unrecognized risk factors for recurrent implantation failure (RIF) as defined in the ESHRE recommendation?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Anti-Müllerian hormone (AMH) is the strongest predictor for RIF, followed by chronic endometritis (CE), intrauterine adhesions, and BMI.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Advanced age is a well-known risk factor for implantation failure, and the definition of RIF was stratified by age in the 2023 ESHRE recommendation. However, the literature identifies other risk factors, including CE, endometriosis, BMI, endometrial polyps, intrauterine adhesions, hydrosalpinx, uterine malformation, submucosal myoma, polycystic ovary syndrome, thyroid dysfunction, rheumatic diseases, and hyperprolactinemia, to be associated with implantation failure. In addition, our clinical experience suggests AMH and a history of previous livebirth affect RIF. It remains unclear which of these factors are the best predictors of RIF.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;A cohort study drawn from ART cycles between June 2019 and June 2022.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;Two hundred and ninety-eight RIF patients and 2056 controls (women who achieved successful embryo implantation within 1-2 transfer cycles) were identified from 15 329 ART cycles at the Reproductive Medical Center at the First Affiliated Hospital of Sun Yat-sen University. RIF was defined according to the recommendation of ESHRE 2023. Basic characteristics, reproductive history, laboratory indicators (autoantibodies and endocrine factors), ultrasound, laparoscopy, hysteroscopy, hysterosalpingography, biopsy, and immunohistochemistry results were collected from the electronic medical record system. The Random Forest procedure was applied to build a machine learning model for predicting RIF. Overall predictive accuracy was assessed by using the AUC of receiver-operator characteristic curve and calibration plots. The SHapley Additive exPlanations (SHAP) framework was used to interpret the model.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;From 32 variables, elevated AMH level and greater number of live births were associated with lower risk of RIF, while CE, intrauterine adhesions, high FSH level, high testosterone level, advanced female age, polyps, history of recurrent pregnancy loss, history of cesarean section, polycystic ovary syndrome, and rheumatic diseases were associated with higher risk of RIF according to the established random forest model. The predictive model yielded AUCs of 0.83 (95% CI: 0.80-0.86) in training dataset and 0.78 (95% CI: 0.73-0.84) in testing dataset. The calibration curve indicated good predictive performance in both training and testing datasets. SHAP values indicated that AMH had the greatest influence on the RIF risks, whereas CE, intrauterine adhesions, and BMI were the second, third, and fourth most significant r","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of major gynecologic surgery before age 40 among daughters of young mothers.","authors":"Clarice R Weinberg, Olga Basso, Aimee A D'Aloisio, Dale P Sandler","doi":"10.1093/humrep/deaf048","DOIUrl":"https://doi.org/10.1093/humrep/deaf048","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Is being born of a young mother associated with worse gynecologic health, as indicated by a bilateral oophorectomy or hysterectomy before age 40?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Daughters of mothers younger than 25 did not have reduced parity but did have a higher risk of having bilateral oophorectomy or hysterectomy before age 40, particularly if their mother was younger than 20 years at their birth.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Three recent studies have reported lower fecundability among daughters of mothers younger than 20 years; adverse socioeconomic conditions may explain part of that association.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;This study reports cumulative, primarily retrospective, accrual of outcomes up to age 40 among 41 450 women recruited into the US-based Sister Study between 2003 and 2009.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;The analysis sample included women ≥41 years at the time of the latest follow-up and &lt;66 years at recruitment. Using log-binomial regression, we estimated adjusted relative risks (RRs) of having major gynecologic surgery (bilateral oophorectomy or hysterectomy) before age 40 by age of the participant's mother (G1) when she gave birth to the participant (G2). All models were adjusted for father's age at G2's birth, daughter's self-identified race/ethnicity, and year of birth. We assessed possible effect modification by stratifying the analyses by self-reported G2's family income level during childhood (poor-low, medium-high) and G2's educational level (categorized as below bachelor's degree and bachelor's degree or higher) and, in the following step, by G2's age at first birth.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Compared with daughters born to mothers aged 30-34, daughters of mothers &lt;20 and 20-24 years had an RR of 1.74 (95% CI 1.51, 2.00) and 1.35 (1.22, 1.50), respectively, of major gynecologic surgery before age 40. Although lower childhood income, G2 education, and giving birth before age 25 were strongly associated with outcome risk, the RRs changed little after accounting for those factors.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations, reasons for caution: &lt;/strong&gt;This is a descriptive study of a proxy indicator of poor gynecologic health. Furthermore, all information was self-reported and, for nearly all women, recalled after the event. The measures used for socioeconomic status may have been insufficient.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;Daughters of younger mothers did not have reduced parity but appeared to have a higher risk of major gynecologic surgery before age 40. This study adds to prior evidence that daughters of young mothers have worse gynecologic health.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study funding/competing interest(s): &lt;/strong&gt;This research was supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01-ES","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Swim-up versus density gradients for sperm preparation in infertile couples undergoing intrauterine insemination: a randomized clinical trial.","authors":"Tuyen N D Duong, Vinh Q Dang, Tien K Le, Anh T L Vu, Duy L Nguyen, Toan D Pham, Mai T Nguyen, Phuong T M Nguyen, Tuan M Vo, Chau T H Nguyen, Phuong T B Le, Anh H Le, Cam T Tran, Ben W Mol, Lan N Vuong, Tuong M Ho","doi":"10.1093/humrep/deaf047","DOIUrl":"https://doi.org/10.1093/humrep/deaf047","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;What is the effectiveness of swim-up (SU) and density gradients (DG) for sperm preparation in infertile couples undergoing IUI?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;In infertile couples undergoing IUI, SU and DG did not result in statistically significant different live birth rates.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;SU and DG are the two most commonly used techniques for sperm preparation in infertile couples undergoing IUI. In the latest Cochrane review, given the very low quality of available data, the authors were uncertain whether there was a difference in clinical pregnancy rates between the two techniques. Furthermore, live birth rate was not reported in any trial.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;This open-label, two-centre, randomized clinical trial was conducted at two IVF centres in Vietnam. A sample size of 912 couples was needed to demonstrate a 5% difference between SU and DG (power 0.80, two-sided alpha 5%, loss to follow-up, and cross-over rate 10%). Randomization was performed using a computer-generated random list, with a variable block size of 2, 4, or 6. Assignment to treatment allocation was done via a web portal.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;Eligible couples included those who were ≥18 years of age, where the husbands' sperm concentration, progressive motility (PM) rate, and total PM sperm count before sperm preparation were ≥5 × 106/ml, ≥32%, and &gt;5 × 106 (according to the WHO 2010 criteria), respectively. Couples using frozen semen, or couples where the husband's semen was hyperviscous, were not included. On the day of IUI, participants were randomized (1:1 ratio) to undergo either SU or DG. Sperm preparation was performed within 1 h after ejaculation. IUI was performed once at 36-40 h after hCG trigger. Primary outcome was live birth after the first IUI cycle.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Between 7 August 2020 and 29 October 2022, we randomized 456 couples to SU and 456 couples to DG. Live birth after the first IUI cycle occurred in 55 (12.1%) couples in the SU group and 71 (15.7%) couples in the DG group (relative risk 0.77; 95% CI 0.56 to 1.07). There were no statistically significant differences between the two groups in terms of other pregnancy outcomes as well as obstetrics and perinatal outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations, reasons for caution: &lt;/strong&gt;The main limitation of the study was its open-label design, due to the nature of the interventions.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;In infertile couples undergoing IUI, SU and DG can both be used for sperm preparation. The decision on which to use might depend more on practical factors such as processing time and how easy it is to standardize the method.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study funding/competing interest(s): &lt;/strong&gt;The study was funded by My Duc Hospital, Ho Chi Minh City, Vietnam. B.W.M. is supported by a NHM","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients with endometriosis in the vagina, bowel, or bladder experience a prolonged diagnostic delay: an observational study.","authors":"M E Madsen, D Hartwell, L K A Kähler, L Dyrved, B H Ejsing, L E Vexø, S E Thomassen, M C Havemann, A E Sakse, K Røssaak, M Nyegaard, H S Nielsen","doi":"10.1093/humrep/deaf046","DOIUrl":"https://doi.org/10.1093/humrep/deaf046","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Do the diagnostic delay and symptoms differ between endometriosis patients with advanced disease, defined as endometriosis involving the vagina, intestine, rectovaginal septum, or bladder (eVIRB), compared to patients without endometriosis in these locations (non-eVIRB)?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Patients with advanced endometriosis had a significantly longer diagnostic delay, an earlier onset of symptoms, and more intense pain during menstruation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Endometriosis patients often experience years of symptoms before diagnosis. Whether there is an association between the length of this diagnostic delay and advanced disease remains unclear. Confirming such an association would underscore the importance of early diagnosis to ensure appropriate treatment, which may reduce the risk of irreversible organ damage and high-risk surgery for patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;This is an observational cohort study of 129 patients undergoing endometriosis surgery conducted over a 3-year period. The first patient was operated on in November 2019. All patients reported retrospective questionnaire data, and surgeons described surgical findings.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;The patients were operated on for predominantly moderate to severe endometriosis at a Tertiary Endometriosis Centre in Denmark. The diagnostic delay was calculated from questionnaire data and related to intraoperative findings. Selected symptoms were compared.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;The median diagnostic delay was 5 years. However, the patients with eVIRB (n = 75) experienced a significantly longer median diagnostic delay of 9 years compared to non-eVIRB patients (n = 54), who had a median delay of only 2 years (P = 0.005). The odds ratio of having eVIRB was 5-fold (95% CI 2.18-11.61, P &lt; 0.001) increased if the diagnostic delay exceeded 5 years, and they reported a significantly earlier onset of endometriosis symptoms. Both groups reported numerous pain symptoms, with a significant difference observed only in responses regarding severe period cramps requiring bed rest and use of painkillers. The eVIRB group had used hormones significantly longer and had taken painkillers more regularly due to pelvic pain.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations, reasons for caution: &lt;/strong&gt;The retrospective data may be affected by recall bias. This study describes associations between a prolonged diagnostic delay and advanced disease, not causality.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;This study is the first to describe an association between advanced endometriosis and a prolonged diagnostic delay after adjusting for total years of hormonal use and age at surgery. Future research should concentrate on strategies to achieve earlier diagnosis for patients presenting with this advanced form of the disease, given ","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Y-chromosome microdeletion screening in Chinese male infertility patients: a large-scale multi-centre study on incidence","authors":"Wei-Kang Chen, Zu-Bo Liu, Tong-Tong Lin, Yuan-Yuan Zhou, Le-Jun Li, Zhong-Yan Liang, Jing-Gen Wu, Fu Luo, Ke-Da Yu, Feng-Bin Zhang, Jing-Ping Li","doi":"10.1093/humrep/deaf043","DOIUrl":"https://doi.org/10.1093/humrep/deaf043","url":null,"abstract":"STUDY QUESTION What is the optimal sperm concentration threshold for screening Y-chromosome microdeletions (YCMs) in male infertility patients? SUMMARY ANSWER This study identified three clinically relevant screening thresholds: an receiver operating characteristic (ROC)-optimal cutoff at 0.45 million sperm/ml, a high-sensitivity cutoff at 8 million sperm/ml, and a cost-effective threshold at 1 million sperm/ml. WHAT IS KNOWN ALREADY YCMs are the second most common genetic cause of male infertility, however, current screening thresholds remain controversial due to limited supporting evidence. STUDY DESIGN, SIZE, DURATION This retrospective multi-centre cohort study included 6806 male patients who underwent fertility assessments and azoospermia factor (AZF) gene testing between September 2013 and January 2024. PARTICIPANTS/MATERIALS, SETTING, METHODS ROC analysis was used to determine the AUC to show the effectiveness of sperm concentration for predicting AZF deletions. The sensitivity and specificity of different sperm concentration screening thresholds were measured. MAIN RESULTS AND THE ROLE OF CHANCE The incidence of YCMs was found to be 12.71% in non-obstructive azoospermia patients, 13.35% in patients with sperm concentrations between 0 and 1 million/ml, and 3.56% in those between 1 and 5 million/ml. ROC analysis demonstrated that sperm concentration was a good predictor of AZF deletions (AUC: 0.75, 95% CI: 0.74–0.77). The optimal threshold of 0.45 million/ml yielded a sensitivity of 86.84%, specificity of 59.97%, positive predictive value (PPV) of 13.48%, and negative predictive value (NPV) of 98.45%. A threshold of 8 million/ml achieved maximum sensitivity of 100.00% and NPV of 100.00%, but with specificity of 30.32% and PPV of 9.34%. The model showed good calibration with a Brier score of 0.06 and a goodness-of-fit test P-value of 0.726. Cost-effectiveness analysis revealed that a threshold of 1 million/ml provided the lowest incremental cost-effectiveness ratio. LIMITATIONS, REASONS FOR CAUTION Firstly, despite being the largest cohort study to date, our data primarily originated from eastern China, particularly the Zhejiang region. A nationwide multi-centre study could further validate our findings across different Chinese populations. Secondly, our cost-effectiveness analysis uses general gross domestics product-based willingness-to-pay thresholds, while disease-specific thresholds might be more appropriate and could be explored through nationwide surveys. Moreover, it is important to note that our cost-effectiveness findings are specifically based on the Chinese healthcare system and may not be directly applicable to other countries due to variations in healthcare systems, insurance coverage, and patient payment responsibilities across different regions globally. Another limitation of our cost-effectiveness analysis is that it may not fully capture the complex downstream implications of YCM detection in non-azoospermic men, where the ","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"61 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}