Journal of Human Reproductive Sciences最新文献

{"title":"Novel SUN5 Mutation Associated with Acephalic Spermatozoa Syndrome: A Cross-sectional Study.","authors":"Sarvenaz Alinia, Fatemeh Eskandari Chenari, Seyedeh-Hanieh Hosseini, Alemeh Rafaee, Amaneh Javid, Mohammad Ali Sadighi Gilani, Marjan Sabbaghian","doi":"10.4103/jhrs.jhrs_37_25","DOIUrl":"10.4103/jhrs.jhrs_37_25","url":null,"abstract":"<p><strong>Background: </strong>The <i>SUN5</i> gene encodes a testis-specific protein required for sperm head-tail connection during spermiogenesis. The <i>SUN5</i> gene has an established role in the acephalic spermatozoa syndrome (ASS) defect recognised by headless tails, spermatozoa with disrupted head-tail junction and also a few tailless heads in semen.</p><p><strong>Aim: </strong>This study aims to evaluate the genetic variants of all exons of the <i>SUN5</i> gene and the protein expression in 10 men with ASS.</p><p><strong>Settings and design: </strong>This cross-sectional study was conducted on 10 infertile men with ASS as a case group and 10 men with normal spermogram as a control group referred to the Royan institute between 2015 and 2020.</p><p><strong>Materials and methods: </strong>Polymerase chain reaction and Sanger sequencing were performed on DNA extracted from patients' peripheral blood. In addition, immunocytochemistry and western blotting were accomplished to evaluate the SUN5 protein expression in the patient carrying a distinct exonic variation.</p><p><strong>Statistical analysis used: </strong>No statistical analysis was needed to be done in this survey.</p><p><strong>Results: </strong>Sequencing outcomes represented one homozygous missense mutation (c.1073G>A [p.Arg358Gln]) in exon 13 of the <i>SUN5</i> gene in one patient with 98% acephalic spermatozoa in the total sperm population. This mutation did not exist in the control group. SUN5 protein expression was completely undetectable in the patient with c.1073G>A.</p><p><strong>Conclusion: </strong>Based on current results, it could be concluded that c.1073G>A detected mutations in the <i>SUN5</i> gene could alter the SUN5 protein expression and lead to male infertility due to ASS.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 2","pages":"105-112"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Commentary.","authors":"Mohan S Kamath","doi":"10.4103/jhrs.jhrs_120_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_120_25","url":null,"abstract":"","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 2","pages":"59"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies to Improve Assisted Reproductive Technique Outcomes in Women with Adenomyosis: A Narrative Review.","authors":"Ruma Satwik, Nitisha Verma, Vijaita Thakur","doi":"10.4103/jhrs.jhrs_100_25","DOIUrl":"10.4103/jhrs.jhrs_100_25","url":null,"abstract":"<p><p>Adenomyosis is a complex, heterogeneous condition characterised by the development of ectopic endometrial glandular and stromal tissue within the myometrium. Surrounding it, there is reactionary fibrosis, hyperplasia and hypertrophy of the surrounding smooth muscle cells. This induces inflammatory changes in the eutopic endometrium, which alters the molecular environment at the time of implantation. Evidence from systematic reviews of observational studies has suggested a lowering of implantation and live birth rates and an increase in miscarriage rates in assisted reproductive technique (ART), particularly with diffuse adenomyosis involving the inner myometrium and junctional zone. This review describes and evaluates the various medical and surgical strategies employed to improve ART outcomes. These strategies are derived from observational data, and none have been tested through randomised controlled trials. In addition, there is a need to homogenise the reporting of adenomyosis on ultrasonography and stratify adenomyosis populations based on disease burden when determining the efficacy of various interventions.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 2","pages":"60-69"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Report on the Effect of White and Black Truffle Extracts on Rat Semen Parameters <i>In vitro</i>.","authors":"Victoria Nikolaevna Shelkovnikova, Maria Egorovna Dmitrieva, Ekaterina Vladimirovna Malygina, Natalia Alexandrovna Imidoeva, Alexander Yurievich Belyshenko, Maria Mikhailovna Morgunova, Anfisa Alexandrovna Vlasova, Tamara Yurievna Telnova, Anna Alexandrovna Batalova, Olga Evgenievna Lipatova, Tatyana Nikolaevna Vavilina, Angelika Sergeevna Listopad, Olga Vladimirovna Yurlova, Elena Igorevna Martynova, Denis Victorovich Axenov-Gribanov","doi":"10.4103/jhrs.jhrs_35_25","DOIUrl":"10.4103/jhrs.jhrs_35_25","url":null,"abstract":"<p><strong>Background: </strong>Truffle extracts possess the unique properties that make them potentially valuable for medicinal purposes. The use of truffles in reproductive medicine may be of particular interest for developing medications with both spermatozoa-activating and contraceptive effects.</p><p><strong>Aim: </strong>Our experiment evaluated the influence of extracts of white and black truffle mushrooms on rat spermatozoa.</p><p><strong>Settings and design: </strong>Animal model.</p><p><strong>Materials and methods: </strong>The study utilized 28 samples of wild truffle fruiting bodies. In the experiment, we used ejaculate from male Wistar rats (<i>n</i> = 10, 8-12 months). Sperm samples from ten male rats were incubated at 37°C in a 96-well plate under the three conditions: control (methanol evaporated), concentrated truffle extract (25 µL), and diluted extract (1:6 ratio). After solvent evaporation, 150 µL of ejaculate was added to each well. Sixteen sperm parameters were measured using an automated analysis system after 1, 3, and 6 h of incubation.</p><p><strong>Statistical analysis used: </strong>The methods should be adequately detailed or referenced to other work. The statistical processing was performed in the Past software (V4.03) using the ANOVA analysis of variance with the Mann-Whitney test. Differences between the mean values of the parameters were considered statistically significant at <i>P</i> ≤ 0.05.</p><p><strong>Results: </strong>Research has shown that extracts from black and white truffles related to Tuber sp. have a stimulating effect on spermatozoa. Curvilinear velocity and beat cross-frequency also increased by 48% and 50%, respectively. Linearity showed a significant increase by 56% and straightness by 48%. This could be useful in the development of drugs to enhance sperm activity and lifespan. In addition, extracts from black truffles have been found to have a negative impact on spermatozoa, which could be relevant for developing new contraceptive drugs.</p><p><strong>Conclusion: </strong>Our study demonstrated the influence of methanol extracts of Tuber sp. mushrooms on male gametes of rats <i>in vitro</i>.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 2","pages":"118-124"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.","authors":"Prafulla S Ambulkar, Shuchi Jain, Jwalant Waghmare, Pratibha Narang","doi":"10.4103/jhrs.jhrs_43_25","DOIUrl":"10.4103/jhrs.jhrs_43_25","url":null,"abstract":"<p><p>The syndrome, 48, XXYY is a rare sex chromosome aneuploidy in males. These individuals have unique clinical features such as male infertility, testicular agenesis, tall stature, gynaecomastia, tremors and variable phenotypes of neurodevelopment and psychiatric disorders. We report a case of a 32-year-old infertile male patient with tall stature and atrophied testes. The seminal analysis showed azoospermia. Hormone analysis and ultrasonographic evaluation confirmed the diagnosis as non-obstructive azoospermia. Clinically, he was diagnosed with Klinefelter syndrome (KS). Cytogenetic investigation confirmed an abnormal male karyotype with sex chromosome aneuploidy, with a 48, XXYY genotype. He had more complex physical, medical and psychological phenotypes which made him distinct from males with 47, XXY KS. Although hypergonadotropic hypogonadism features are shared in both syndromes, the 48, XXYY patients have more psychological disorders, with moderate intellectual disability and attention-deficit/hyperactivity disorders (ADHD). This patient had the rare 48, XXYY chromosomal constitution, which is considered a variant of KS but manifests with more complex clinical and psychological features. Most 48, XXYY males are diagnosed due to infertility. In addition to cognitive impairment and developmental delay, behavioural dysfunction and difficulties in occupational skills are the main complications. Early detection, clinical assessment, genetic counselling, hormonal therapy and infertility management are essential for better long-term outcomes for these patients.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 2","pages":"129-133"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role, Importance of Genetic Counsellors and the Awareness of Genetic Counselling in Indian Scenario.","authors":"Nadir Aman","doi":"10.4103/jhrs.jhrs_34_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_34_25","url":null,"abstract":"<p><p>Genetic counselling is a critical component of genomic medicine, offering individuals and families support in understanding genetic risks, making informed decisions and adapting to potential genetic conditions. This commentary highlights the key roles of genetic counsellors in disease prevention, reproductive medicine and patient support. Pre-test counselling and informed consent ensure ethical and autonomous decision-making before genetic testing. The distinct yet complementary roles of genetic counsellors and clinical geneticists enhance comprehensive patient care. The case report illustrates the practical applications of genetic counselling involving a paediatric case of beta-thalassaemia. Genetic counselling plays a crucial role in reproductive medicine, particularly before pre-implantation genetic diagnosis, enabling couples to make informed reproductive choices. Additionally, it contributes to the prevention of genetic disorders by educating populations about consanguinity risks, carrier screening and early genetic interventions. The structured process of genetic counselling ensures patient-centred care from initial risk assessment to post-test support. Recognising genetic counselling as a distinct profession and integrating it into multidisciplinary healthcare teams will be essential in improving patient outcomes and advancing genomic medicine.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"45-47"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethical Imperatives in the Integration of Artificial Intelligence in Assisted Reproductive Technology.","authors":"Nancy Nair, Ankit K Badge, Vaishnavi Mishra, Nandkishor J Bankar","doi":"10.4103/jhrs.jhrs_19_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_19_25","url":null,"abstract":"","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"57-58"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Genetic Variants of CDC25A Significantly Increase Risk of Spermatogenesis Arrest in Men from Bengali Population, India: A Cross-Sectional Study.","authors":"Samudra Pal, Pranab Paladhi, Saurav Dutta, Ratna Chattopadhyay, Sujay Ghosh","doi":"10.4103/jhrs.jhrs_26_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_26_25","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic azoospermia is one of the most common reasons for male infertility, but little is known about its genetic origins. The CDC25A gene, a meiotic core regulator, encodes a phosphatase that triggers the G1/S transition of meiosis. It dephosphorylates and activates CDK2, as well as enhances CDC2-cyclin E, CDK2-cyclin A and CDK1-cyclin B complex formation, which is crucial for chromosome condensation and progression of meiosis.</p><p><strong>Aim: </strong>The aim of this study was to identify individual variants of the CDC25A gene that make men susceptible to idiopathic azoospermia.</p><p><strong>Setting and design: </strong>Genetic association study comparing the CDC25A gene in men with idiopathic azoospermia.</p><p><strong>Materials and methods: </strong>The coding sequence of the entire CDC25A gene was sequenced in a population of azoospermic men. Recently discovered heterozygous mutations were assessed using <i>in silico</i> prediction tools to determine their possible pathogenicity.</p><p><strong>Statistical analysis used: </strong>Bioinformatics software such as SIFT, PolyPhen-2 and MutationTaster were applied to forecast the functional consequence of detected variants.</p><p><strong>Results: </strong>Novel heterozygous mutations were found in CDC25A. Variants present only in azoospermic men were evaluated for their pathogenicity, indicating their potential involvement in infertility.</p><p><strong>Conclusion: </strong>This work identifies new CDC25A gene variants that may be linked with idiopathic azoospermia. These discoveries add to the knowledge of the genetic aetiology of male infertility and could contribute to the development of future diagnostics and treatments.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"32-37"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Fate of Zona free Oocyte Following Intracytoplasmic Sperm Injection: A Case Report and Review of Literature.","authors":"Zakiyatul Faizah, Geraldo Laurus, Vellyana Lie, Hendy Hendarto","doi":"10.4103/jhrs.jhrs_174_24","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_174_24","url":null,"abstract":"<p><p>The zona pellucida (ZP) is essential in reproductive biology, covering sperm selection, species-specific fertilisation, inhibition of polyspermy and stability of blastomeres in embryos. This case report highlights the developmental potential of a zona-free oocyte (ZFO). A 44-year-old woman produced a single oocyte, where detachment of the ZP occurred during the denudation process, leaving a ZFO. This oocyte underwent intracytoplasmic sperm injection (ICSI) and subsequent culture, developing into a four-cell embryo on the 3^rd day. Despite embryo transfer, no pregnancy was achieved 14 days post-transfer. This case underlines the potential for cell development in ZFOs while emphasising the challenges of achieving successful implantation.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"48-53"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Should We Be Offering Intracytoplasmic Sperm Injection to All Couples with Unexplained Infertility: A Cohort Study.","authors":"Neeta Singh, Neena Malhotra, Reeta Mahey, Supriya Kumari, Monika Saini, Nisha","doi":"10.4103/jhrs.jhrs_157_24","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_157_24","url":null,"abstract":"<p><strong>Background: </strong>In unexplained infertility (UI), the use of intracytoplasmic sperm injection (ICSI) has been increased to prevent total fertilisation failure (TFF). However, there is little evidence to support improved clinical outcomes.</p><p><strong>Aim: </strong>The aim of the study was to assess whether ICSI improves the outcomes compared to conventional <i>in vitro</i> fertilisation (IVF) in UI.</p><p><strong>Settings and design: </strong>A retrospective cohort study in a tertiary centre.</p><p><strong>Materials and methods: </strong>Patients were divided into two groups. Group A in which ICSI-cycles were performed and Group B in which IVF-cycles were performed. All UI couples with females aged between 21 and 38 years who underwent the first long GnRH-agonist or GnRH-antagonist protocol stimulation cycle followed by fresh embryo transfer were included. UI couples who needed rescue-ICSI, donor-recipient cycles and pre-implantation genetic diagnosis were excluded. Outcomes were fertilisation rate, TFF, good-quality day 3 embryo, implantation rate, miscarriage rate and clinical pregnancy rate.</p><p><strong>Statistical analysis used: </strong>STATA 18.0 software (Stata Corp, TX, USA) was used.</p><p><strong>Results: </strong>A total of 511 UI patients were included out of which 182 underwent ICSI and 310 underwent IVF cycles. Baseline characteristics were similar in both groups. The mean percentage fertilisation rate was comparable in the ICSI and IVF groups (67.18 ± 22.61 vs. 66.93 ± 26.66, <i>P</i> = 0.92, respectively). TFF was lower in the ICSI group compared to the IVF group (2.7% vs. 5.8%, <i>P</i> = 0.12). The mean number of good-quality embryo development rate on day 3 was similar between the ICSI and IVF groups (<i>P</i> = 0.93). Although implantation and clinical pregnancy rates were higher in the IVF group compared to the ICSI group with <i>P</i> > 0.05, these differences were not statistically significant.</p><p><strong>Conclusion: </strong>The study reported reduced TFF in the ICSI group in comparison to the IVF group but was not statistically significant with comparable clinical outcomes.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"9-15"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}