Journal of Human Reproductive Sciences最新文献

{"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}

{"title":"The Predictive Value of Serum Follicle-stimulating Hormone Level and Testicular Volume on the Outcome of Spermatozoa Retrieval from Testes in Men with Non-obstructive Azoospermia - A Retrospective Cohort Study.","authors":"Puvithra Thanikachalam, Gayatri Ravikuppan, Sowbarnika Arunkumar, Radha Pandiyan, Pandiyan Natarajan","doi":"10.4103/jhrs.jhrs_9_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_9_25","url":null,"abstract":"<p><strong>Background: </strong>Biological parenthood in men with azoospermia can be achieved only by successful surgical spermatozoa retrieval and utilising these spermatozoa to perform intracytoplasmic spermatozoon injection. Spermatozoa retrieval from testes (SPERT) involves removing seminiferous tubules in an attempt to retrieve spermatozoa in men with non-obstructive azoospermia (NOA). Testicular volume and serum follicle-stimulating hormone (FSH) levels are considered to be markers for predicting the success of spermatozoa retrieval from the testes.</p><p><strong>Aim: </strong>The aim of this study was to study the predictive value of serum FSH level and testicular volume on the outcome of SPERT in men with NOA.</p><p><strong>Settings and design: </strong>It is a retrospective cohort study of 26 men with NOA who underwent SPERT from 2008 to 2024 in a university-level teaching hospital.</p><p><strong>Materials and methods: </strong>The study population was divided into four groups based on the FSH levels (Group I: FSH: 2-10.9 mIU/mL [<i>n</i> = 10], Group II: FSH: 11-20.9 mIU/mL [<i>n</i> = 4], Group III: FSH: 21-30 mIU/mL [<i>n</i> = 8] and Group IV: FSH: >30 mIU/mL [<i>n</i> = 4]). A comparison of testicular volume and SPERT outcome was studied in the number of testes, in which SPERT was performed (<i>n</i> = 48) due to the differences in testicular volume in the same individual and also because only unilateral SPERT was performed in some patients. Patients were divided into three groups based on testicular volume (Group I: Testicular volume: 7-10 mL (<i>n</i> = 30), Group II: Testicular volume: 4-6 mL (<i>n</i> = 11) and Group III: Testicular volume: <3 mL (<i>n</i> = 7)].</p><p><strong>Statistical analysis used: </strong>The collected data were analysed using Chi-square test using SPSS software.</p><p><strong>Results: </strong>Our observations showed no correlation between successful SPERT and serum FSH levels or testicular volume. Based on the serum FSH level, the success rate of SPERT was 40%, 50%, 25% and 75% in Groups I, II, III and IV (<i>P</i> = 0.415). Similarly, based on the testicular volume groups, the success rates were 30%, 45% and 71% in Groups I, II and III (<i>P</i> = 0.118).</p><p><strong>Conclusion: </strong>In this study, we found that neither serum FSH level nor testicular volume could predict the success of spermatozoa retrieval using the SPERT technique in men with NOA.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"38-44"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028465","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":"Unilateral Inguinal Swelling in a Young Female: An Unusual Presentation of MURCS.","authors":"Navdeep Kaur, Bhawna Satija, Sayani Mahal, Shubham Arora","doi":"10.4103/jhrs.jhrs_190_24","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_190_24","url":null,"abstract":"<p><p>Inguinal hernia in females is an uncommon entity. While most patients present in infancy or early in childhood, only a few cases are diagnosed in adulthood. Most cases of inguinal hernia have small bowel or omentum as its content. Herniation of the ovary or fallopian tube is rare. In our case, an 18-year-old female presented to the outpatient department with unilateral inguinal swelling, which on imaging was found to be ovarian inguinal herniation. This prompted further evaluation. There was an associated absence of the uterus and left kidney, and congenital block vertebrae involving the cervical spine. On probing it was found that she had primary amenorrhoea with normal secondary sexual characteristics. All the findings led to the diagnosis of Mayer Rokitansky Kuster Hauser type II or Mullerian duct aplasia renal agenesis cervicothoracic somite dysplasia (MURCS) with unilateral inguinal ovarian herniation. Mullerian duct aplasia renal agenesis cervicothoracic somite dysplasia (MURCS) present a challenge as they require a multidisciplinary team including gynaecologist, surgeon and psychologist to preserve the ovarian function and help the patient counsel regarding the reproductive outcome and wade through the associated emotional stress.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"54-56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020651","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":"Efficacy and Safety of Letrozole in Improving Semen Parameters of Subfertile Men with Moderate-to-Severe Oligoasthenoteratozoospermia: A Placebo-controlled Randomised Trial.","authors":"Pallavi Ullur, N S Kubera, Soliappappan Manikandan, Nivedita Nanda, Sujatha Venkatraman, Anusuya Ram","doi":"10.4103/jhrs.jhrs_160_24","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_160_24","url":null,"abstract":"<p><strong>Background: </strong>Currently lack of consensus regarding the medical treatment of men with Oligoasthenoteratozoospermia (OATS). Letrozole is an aromatase inhibitor and may improve semen quality by stimulating hormone synthesis and spermatogenesis. There is lack of evidence on the efficacy and safety of letrozole as therapy for male infertility.</p><p><strong>Aim: </strong>To study the efficacy of letrozole in improving semen parameters, hormonal profile of participants with moderate-to-severe OATS and its side effects.</p><p><strong>Settings and design: </strong>Randomised double-blinded placebo-controlled trials conducted in a tertiary care centre conducted between August 2021 and July 2023. Men with abnormal semen analysis reports between the age group of 21 and 45 years with moderate-to-severe OATS visiting the male infertility clinic were enrolled.</p><p><strong>Materials and methods: </strong>Fifty-four men were randomised into two groups. Twenty-eight men in A (intervention group) received letrozole, and 24 men in Group B (control group) received a placebo after written informed consent. After 3 months, semen analysis and hormonal parameters were studied.</p><p><strong>Statistical analysis used: </strong>Data analysis was performed using SPSS version 19 (IBM). Associations between categorical variables in two groups were analysed using the Chi-square test or Fisher's exact test. Continuous variables were compared using the Mann-Whitney test, and independent Students' <i>t</i>-test and pre- and post-treatment comparisons of continuous variables were assessed using a paired <i>t</i>-test or Wilcoxon signed-rank test.</p><p><strong>Results: </strong>Total sperm count increased by 4.4 (2.8, 8.8) million per ejaculate, sperm concentration by 3.2 (1, 4.4) million/mL and progressive motility by 5.8 ± 7.3% compared to the placebo group, which was statistically significant (<i>P</i> = 0.001). The use of letrozole had minor side effects like headache and nausea. Letrozole use in men with OATS showed a significant improvement in follicle-stimulating hormone by 6.8 ± 5.5 mIU/mL, luteinising hormone by 6.3 ± 3.3 IU/L, testosterone by 193.3 ± 130 ng/dL, with <i>P</i> value of 0.001 and significant fall in oestradiol by 17.6 ± 7.9 pg/mL overall improving T/E ratio by 18.4 ± 8.8.</p><p><strong>Conclusion: </strong>Letrozole use may result in improving semen parameters in men with moderate-to-severe OATS. However, these findings need to be validated in larger trials.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"2-8"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006352","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_49_25","DOIUrl":"https://doi.org/10.4103/jhrs.jhrs_49_25","url":null,"abstract":"","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 1","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12057840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007387","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}