Human reproduction最新文献

{"title":"'Ovariostasis' as the main preventive and therapeutic strategy for gynecological pathologies in women of reproductive age.","authors":"Antonio La Marca, Chiara Selmi","doi":"10.1093/humrep/deaf063","DOIUrl":"https://doi.org/10.1093/humrep/deaf063","url":null,"abstract":"<p><p>Ovariostasis is a reversible and temporary suspension of the cyclic ovarian activity, characterized by anovulation and hypogonadotropinemia (low serum concentrations of FSH and LH), which can be observed in case of pregnancy or hypothalamic amenorrhea or medically obtained through the administration of combined hormonal contraceptives, progestin-only pills, or GnRH analogues. Ovariostasis effectively prevents undesired pregnancies, ovarian torsion, and hemorrhagic corpus luteum. Moreover, ovariostasis can be useful for the treatment of primary dysmenorrhea, polycystic ovary syndrome, endometriosis, adenomyosis, uterine fibroids, and abnormal uterine bleeding. Ovariostasis also offers long-term benefits; for example, a significant risk reduction for ovarian, colorectal, and endometrial cancer, despite a slightly increased breast cancer risk. According to limited data, ovariostasis may have an influence on the age of onset of natural menopause. Experimental studies on mice hypothesize positive effects of ovariostasis on the ovarian reserve, thereby contributing to preservation of fertility. Ovariostasis can be considered as a practical, effective tool to prevent and treat gynecological pathologies in women of reproductive age and needs further studies on humans to evaluate its influence on the reproductive lifespan and ovarian reserve.</p>","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779857","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":"Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders.","authors":"Paula Rubens, Anne Mayeur, Kalliopi Chatzovoulou, Nadine Gigarel, Sophie Monnot, Agnès Rötig, Arnold Munnich, Nelly Frydman, Julie Steffann","doi":"10.1093/humrep/deaf050","DOIUrl":"https://doi.org/10.1093/humrep/deaf050","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Is preimplantation genetic testing for mitochondrial DNA (mtDNA) disorders (PGT-mt) feasible at early compaction and blastocyst stages?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Pathogenic mtDNA variants segregate evenly among cell types and various lineages of a given embryo during preimplantation development, supporting the relevance of genetic analyses performed on Day 4 blastomere and on Day 5 or 6 trophectoderm (TE) samples.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;PGT-mt is validated at cleavage stage (Day 3 of development). However, its feasibility at later stages is questionable, as little is known regarding the segregation of pathogenic mtDNA variants during preimplantation development. Since mtDNA replication is silenced until the blastocyst stage (Day 5 or 6), uneven mtDNA segregation between preimplantation embryo cellular lineages known as a 'bottleneck' effect, cannot be excluded, posing a challenge for PGT-mt.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;We analyzed 112 'mito' embryos carrying pathogenic mtDNA variants and 28 control embryos with mtDNA polymorphism. Heteroplasmy levels were assessed in single cells of the TE, in different parts of blastocysts (inner cell mass and TE), and at three time points of development, namely cleavage (Day 3), early compaction (Day 4), and blastocyst stages (Day 5 or 6).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;As part of clinical PGT, a blastomere biopsy was performed at cleavage or early compaction stages (Day 3 or 4) on 112 'mito' and 21/28 control embryos. Further analysis was carried out at Day 5 or 6 on 51 embryos deemed unsuitable for uterine transfer and donated to research. Heteroplasmy levels were determined by semi-quantitative PCR amplification of (i) the mtDNA pathogenic variants with additional enzymatic digestion or (ii) the mtDNA polymorphic hypervariable region 2.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Here, we first show that mtDNA variants segregate evenly among blastomeres during early compaction (Day 4), supporting the feasibility of PGT-mt at this stage. We also found that mtDNA ratios remain stable between cleavage and blastocyst stages. Yet, the substantial variation of heteroplasmy levels occurring among single TE cells in 1/8 embryos suggests that PGT is only feasible when at least 5-10 cells are collected by standard TE biopsy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations, reasons for caution: &lt;/strong&gt;This study sheds light on mtDNA segregation in human preimplantation embryo development. Its limitation lies in the scarcity of the material and the small number of embryos carrying a specific pathogenic mtDNA variant. Furthermore, the study of single cells from TE was performed on control embryos only.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;By supporting the relevance of blastocyst biopsy in the context of PGT for pathogenic mtDNA variants, this study contributes to the genera","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772003","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":"Spermatozoa as harbingers of mortality: the curious link between semen quality and life expectancy.","authors":"Robert John Aitken","doi":"10.1093/humrep/deaf027","DOIUrl":"10.1093/humrep/deaf027","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"580-584"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556604","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":"Reduction in minipubertal gonadotropin levels alters reproductive lifespan and ovarian follicular loss in female mice.","authors":"Mélanie Chester, Marie M Devillers, Raphaël Corre, Frank Giton, Fatoumata Souaré, Claire-Hélène Petrovic, Éloïse Airaud, Daniel Quintas, Sakina Mhaouty-Kodja, Lydie Naulé, Céline J Guigon","doi":"10.1093/humrep/deaf019","DOIUrl":"10.1093/humrep/deaf019","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;What is the effect of attenuating the physiological hypergonadotropic activity encountered at minipuberty on female reproductive function in a mouse model?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Decreasing the surge of gonadotropins at minipuberty extended reproductive lifespan, coinciding with alterations in neuroendocrine and ovarian aging.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Minipuberty is characterized by the tremendous activation of the gonadotrope axis, as evidenced by elevated levels of gonadotropins regulating folliculogenesis and the synthesis of ovarian hormones, but its role in fertility remains unclear.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;To determine the link between gonadotrope axis activity at minipuberty and reproductive parameters, we used a pharmacological approach to suppress gonadotropin levels in Swiss mice by injecting daily a GnRH receptor antagonist (GnRHR) (Ganirelix, 10 µg/mouse) or its vehicle between 10 and 16 postnatal days, to cover the entire duration of minipuberty. We analyzed the onset of puberty and estrous cyclicity as well as fertility in young (3-5 months) and middle-aged (11 months) mice from control (CTR) and antagonist-treated groups (n = 17-20 mice/age and treatment group). Ovaries and brains were collected, fixed, and sectioned (for histology, follicle count, and immunohistochemistry) or frozen (for analysis of follicular markers, aging, and inflammation) from adult females, and blood was collected by cardiac puncture for hormonal assays (n = 3-8 mice/age and treatment group).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;To analyze the initiation of puberty, we monitored vaginal opening and performed vaginal smears in CTR and antagonist-treated mice. We studied estrous cyclicity on vaginal smears at the beginning of reproductive life. Mice were mated several times with males to assess fertility rates, delay of conception, and litter size. To evaluate ovarian function, we counted follicles at different stages and corpora lutea, and we determined the relative intra-ovarian abundance of key follicular markers by real-time RT-PCR, as well as the levels of circulating anti-Müllerian hormone (AMH) and progesterone by ELISA and GC-MS, respectively. We also analyzed features of ovarian aging and inflammation by histology and by measuring the relative intra-ovarian abundance of some markers using real-time RT-PCR. To determine the impact on neuroendocrine determinants related to the CTR of reproduction, we analyzed circulating gonadotropin levels using Luminex assays as well as kisspeptin and GnRH immunoreactivity in the hypothalamus by immunohistochemistry.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Our results show that the treatment had no impact on the initiation of puberty, estrous cyclicity, or fertility at the beginning of reproductive life. However, it increased reproductive lifespan, as shown by the higher","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"717-729"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The ART-ET screening tool: an easy-to-use non-invasive screening method to predict difficult embryo transfers in advance.","authors":"Baris Ata, Barbara Lawrenz, Laura Melado, Raquel Del Gallego, Carol Coughlan, Francisco Ruiz, Laura Marqueta Marques, Ahmed El-Damen, Ibrahim Elkhatib, Human M Fatemi","doi":"10.1093/humrep/deaf002","DOIUrl":"10.1093/humrep/deaf002","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;What is the diagnostic performance of the ART-ET screening tool, an easy-to-use non-invasive screening tool for prediction of difficult embryo transfers?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;A simple scoring of transvaginal ultrasound examination of the cervical canal can predict difficult embryo transfers with high specificity, positive likelihood ratio, and accuracy; the inclusion of cervical position and history of cesarean without a vaginal delivery improved predictive performance.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Difficult embryo transfer procedures are associated with significantly lower clinical pregnancy and live birth rates, and some interventions may facilitate an anticipated difficult embryo transfer.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;A diagnostic test study prospectively conducted on 239 single euploid blastocyst transfer procedures between March and December 2023. The sample size was calculated to include about 20 difficult transfer procedures. Physicians conducting the transfers were blinded to screening results.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;The study was conducted in two tertiary-level private assisted reproduction centers. The ART-ET Screening tool collected information on patients' body mass index, obstetric history, cervical position, external cervical ostium appearance, and ultrasound examination of the cervical canal. A difficult embryo transfer was defined if one or more of the following occurred during the procedure; use of a malleable obturator to insert the guiding catheter until the internal ostium, use of a forceps to pull the cervix, if there were blood in the transfer catheter following the procedure, if the transfer catheter needed to be reloaded, and if the physician found the procedure difficult.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Ongoing pregnancy rates were 47.6% vs 59.6% after a difficult and easy embryo transfer. With a difficult embryo transfer prevalence of 8.8%, screening score including cervical position, visibility and the length of cervical canal, and obstetric history had the best diagnostic performance with sensitivity of 33.3% (14.59-56.97%), specificity of 99.5% (97.47-99.99%), positive likelihood ratio of 72.67 (9.38-562.73), negative likelihood ratio of 0.67 (0.49-0.91), and an accuracy of 93.7% (89.86-96.45%) for predicting difficult embryo transfers. The simpler cervical ultrasound score also had a good diagnostic performance with a sensitivity of 28.6% (11.28-52.18%), specificity of 98.2% (95.37-99.50%), positive likelihood ratio of 15.57 (4.77-50.84), negative likelihood ratio of 0.73 (0.55-0.95), positive predictive value of 60.0% (31.46-83.03%), negative predictive value of 93.5% (91.59-94.93%), and an accuracy of 93.5% (91.59-94.93%).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations, reasons for caution: &lt;/strong&gt;The diagnostic performance of the proposed ART-ET Screening tool would depe","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"647-653"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407208","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":"Short and long duration testosterone treatments induce reversable subfertility in female mice using a gestational model of gender-affirming hormone therapy.","authors":"Daniel R Pfau, Evelyn Cho, Jamison G Clark, Robin E Kruger, Ruth K Chan-Sui, Hadrian Kinnear, Cynthia Dela Cruz, Amanda R Schwartz, Vasantha Padmanabhan, Ariella Shikanov, Molly B Moravek","doi":"10.1093/humrep/deaf016","DOIUrl":"10.1093/humrep/deaf016","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;How does testosterone gender-affirming hormone therapy (T-GAHT) impact breeding success in female mice?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;T-GAHT causes reversible subfertility in female mice and persistent changes to reproductive tract anatomy, gene expression, and hormone receptors.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Adult female mice implanted with capsules containing 10 mg of testosterone mimic many aspects of reproductive phenotypes of T-GAHT patients, who may desire future gestation while pausing T-GAHT. In mice, oocytes retrieved from T-GAHT mice had decreased IVF rates, and T cessation prior to stimulation improved these outcomes. However, the effects of T-GAHT on breeding have not been examined.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;Adult female CD1 mice were subcutaneously implanted with capsules containing 10 mg of testosterone or blank controls. In separate studies, capsules were removed after 6 ('short') or 12 weeks ('long' n = 15/group), then mice were paired with proven-breeder CD1 males. Breeding pair success and pup development (15-20/group) were measured for first and second litters, then terminal measurements were taken from dams and their adult offspring (10/group).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;The reproductive success of explanted T-GAHT and control mice was investigated by pairing them with proven-breeder CD1 males. Regular observations of dams and litters enabled analysis of fertility and the development of male and female pups for two litters. Terminal measures for dams and/or adult offspring focused on endpoints tied to reproductive tract function and gestation, including reproductive hormones, vaginal cytology, sperm analysis and ovarian and uterine anatomy, histology, and gene expression.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;All but one T-GAHT dams gave birth, but the time between pairing and their first birth was longer than controls after long (22.3 ± 1.3 days vs 24.5 ± 3.1) and short (23.2 ± 1.4 days vs 25.5 ± 4) treatments. Dams given long T-GAHT treatment had fewer pups in their first litters (11.9 ± 2.7 pups vs 7.8 ± 3.1) but pup number was unaltered after short treatment (11.5 ± 2.4 pups vs 11.4 ± 3.7). Further, offspring from first litters displayed accelerated puberty. Fertility differences and offspring developmental effects were absent for second gestations and litters. Despite fertility rescue, several anatomical, genetic, and histological changes persisted in T-GAHT dams after two litters. Offspring reproductive system outcomes were not significantly altered once dam fertility was restored. This study powerfully demonstrates a subfertile phenotype in T-GAHT-treated animals that is rescued over time and identifies gonadotropin and steroid hormone signaling as potential mechanisms for further investigation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Large scale data: &lt;/strong&gt;No large-scale data were generated in t","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"695-706"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single-cell analysis comparing early-stage oocytes from fresh and slow-frozen/thawed human ovarian cortex reveals minimal impact of cryopreservation on the oocyte transcriptome.","authors":"J H Machlin, D F Hannum, A S K Jones, T Schissel, K Potocsky, E E Marsh, S Hammoud, V Padmanabhan, J Z Li, A Shikanov","doi":"10.1093/humrep/deaf009","DOIUrl":"10.1093/humrep/deaf009","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Does the slow-freezing and thawing process have a negative impact on the transcriptome of oocytes isolated from early-stage human follicles compared to fresh controls?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;The transcriptional profiles of fresh and frozen/thawed oocytes did not cluster separately, indicating undetectable differences between the two groups when compared to within-donor heterogeneity.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Previous studies using histological analysis of follicle morphology, density, and stage distribution in slow-frozen/thawed human ovarian cortex compared to fresh controls showed no differences between the two groups. Clinical cases reported in the past 10 years have demonstrated that transplanted slow-frozen/thawed and fresh ovarian cortex restored normal serum FSH levels and regular menstrual cycles by 5 months. However, the slow-frozen and thawed tissue resulted in lower rates of pregnancies and live births, albeit not statistically significant.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;We utilized single-cell RNA-sequencing (scRNAseq) of 144 human oocytes isolated from cadaver ovaries obtained from three donors.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;Human ovarian cortex from three healthy premenopausal donors 16, 18, and 27 years old was cut into squares measuring 10 × 10 × 1 mm3 and either slow-frozen and thawed or processed fresh. First, using a novel method for isolating live oocytes from primordial and primary follicles, the ovarian cortex squares were fragmented with a McIlwain tissue chopper and enzymatically digested. Next, oocytes were mechanically denuded under a dissection microscope and placed individually into wells containing lysis buffer for scRNAseq. Lysed single oocytes were subjected to library prep using the seqWell PlexWell rapid single-cell RNA protocol. Pooled libraries were subjected to 150-bp paired-end sequencing on the NovaSeq6000 Illumina platform. In total, we sequenced 144 oocytes-24 oocytes isolated fresh and 24 oocytes isolated after slow-freezing and thawing from each of the three donors. Additionally, we performed histological analysis of fresh and frozen/thawed ovarian cortex tissue from all three donors using hematoxylin and eosin staining and analyzed morphology, follicle density, and follicle stage distribution differences between fresh and cryopreserved ovarian cortex.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;The histological analysis revealed no differences in follicle stage distribution or follicle morphology between conditions, with the percentage of normal follicles in fresh and frozen/thawed tissue, respectively, as 86.7% and 91.0% for Donor 1, 91.7% and 92.5% for Donor 2, and 96.1% and 91.1% for Donor 3. The follicle density per mm3 in fresh and frozen/thawed tissue, respectively, was 279.4 and 235.8 for Donor 1, 662.2 and 553.5 for Donor 2, and 55.8 and 71.4 for Donor ","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"683-694"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intraovarian platelet-rich plasma injection for ovarian rejuvenation.","authors":"Gorka Barrenetxea","doi":"10.1093/humrep/deaf030","DOIUrl":"10.1093/humrep/deaf030","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"764-765"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A large-scale genome-wide association study on female genital tract polyps highlights role of DNA repair, cell proliferation, and cell growth.","authors":"Amruta D S Pathare, Jelisaveta Džigurski, Natàlia Pujol-Gualdo, Valentina Rukins, Maire Peters, Reedik Mägi, Andres Salumets, Merli Saare, Triin Laisk","doi":"10.1093/humrep/deaf025","DOIUrl":"10.1093/humrep/deaf025","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Can a large-scale genome-wide association study (GWAS) meta-analysis identify genomic risk loci and likely involved genes for female genital tract (FGT) polyps, provide insights into the biological mechanism underlying their development, and inform of potential overlap with other traits, including endometrial cancer?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;GWAS meta-analysis of FGT polyps highlights potentially shared mechanisms between polyp development and cancerous processes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Small-scale candidate gene studies have focused on biological processes such as oestrogen stimulation and inflammation to clarify the biology behind FGT polyps. However, the exact mechanism for the development of polyps is still elusive. At the same time, a genome-wide approach, which has become the gold standard in complex disease genetics, has never been used to uncover the genetics of the FGT polyps.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design, size, duration: &lt;/strong&gt;We performed a GWAS meta-analysis including a total of 36 984 women with FGT polyps (International Classification of Diseases (ICD-10) diagnosis code N84) and 420 993 female controls (without N84 code) of European ancestry from the FinnGen study (11 092 cases and 94 394 controls), Estonian Biobank (EstBB, 14 008 cases and 112 799 controls), and the Pan-UKBB study (11 884 cases and 213 800 controls).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials, setting, methods: &lt;/strong&gt;GWAS meta-analysis and functional annotation of GWAS signals were performed to identify genetic risk loci and prioritize genes in associated loci. To explore associations with other traits, we performed a look-up of associated variants across multiple traits and health conditions, genetic correlation analysis, and phenome-wide association study (PheWAS) with ICD-10 diagnosis codes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Our GWAS meta-analysis revealed 16 significant (P &lt; 5 × 10-8) genomic risk loci. Based on exonic variants in GWAS signals, we prioritized EEFSEC, ODF3, PRIM1, PLCE1, LRRC34/MYNN, EXO1, and CHEK2 which are involved in DNA repair, cell proliferation, and cell growth. Several of the identified genomic loci have previously been linked to endometrial cancer and/or uterine fibroids, highlighting the potentially shared mechanisms underlying tissue overgrowth and cancerous processes. Genetic correlation analysis revealed a positive correlation with body mass index and reproductive traits, that can be classified as symptoms or risk factors of endometrial polyps (EPs), whereas a negative correlation was observed between FGT polyps and both menopause (genetic correlation estimate (rg) = -0.29, SE = 0.08, P = 8.8×10-4) and sex hormone-binding globulin (SHBG) (rg = -0.22, SE = 0.04, P = 2.4×10-8). On the phenotypic level, the strongest associations were observed with endometriosis, uterine fibroids, and excessive, frequent, and irregular menstruation.&lt;/p&gt;&lt;p&gt;&lt;","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"750-763"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476166","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":"Insights into embryo transfer strategies from a medical imaging perspective.","authors":"Yanxia Jia","doi":"10.1093/humrep/deaf010","DOIUrl":"10.1093/humrep/deaf010","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"768-769"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425317","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}