Journal of Human Reproductive Sciences最新文献

{"title":"Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.","authors":"Pritti K Priya, Hetvi Patel, Devanshi Dalal, Amisha Shah","doi":"10.4103/jhrs.jhrs_167_25","DOIUrl":"10.4103/jhrs.jhrs_167_25","url":null,"abstract":"<p><p>46,XX male syndrome, also known as De la Chapelle syndrome, is a rare condition characterised by a discordance between chromosomal sex and male phenotypic presentation. This study investigates the genetic basis of sex-determining region of Y-gene (SRY)-positive 46,XX testicular disorders of sex development in three male patients presenting with primary infertility and signs of hypogonadism. All patients had azoospermia on semen analysis. Cytogenetic and molecular investigations, including conventional karyotyping, fluorescence <i>in situ</i> hybridisation and polymerase chain reaction, confirmed a 46,XX karyotype with SRY gene translocated onto the short arm of one X chromosome. Y chromosome microdeletion analysis revealed the complete absence of Azoospermia Factor a (AZFa), AZFb and AZFc regions, which correlates with the observed infertility. These findings highlight the role of SRY translocation in initiating the testicular development in 46,XX individuals, while the absence of AZF regions contributes to spermatogenic failure.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 4","pages":"254-258"},"PeriodicalIF":1.1,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12815418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010631","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":"Changing Profile of the PCOS Women: A 15 Year Retrospective Cohort Study.","authors":"Sujata Kar","doi":"10.4103/jhrs.jhrs_143_25","DOIUrl":"10.4103/jhrs.jhrs_143_25","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting reproductive-aged women, with a global prevalence of 5%-10%, and up to 25% in certain populations. Developing countries like India have witnessed a surge in obesity and related metabolic comorbidities due to rapid urbanisation and lifestyle transitions. This study examines temporal changes in the clinical and metabolic profile of women with PCOS from Odisha, India, over the past 15 years.</p><p><strong>Aim: </strong>This study aims to analyse how PCOS women have changed in their clinical, phenotypic, biochemical and metabolic parameters over the last two decades.</p><p><strong>Settings and design: </strong>Private hospital and retrospective analysis.</p><p><strong>Materials and methods: </strong>This retrospective chart review included 1530 women diagnosed with PCOS (Rotterdam criteria) at a tertiary care centre in Odisha. Patients were grouped into three periods: Period 1 (2009-2013), Period 2 (2014-2018) and Period 3 (2019-2024), with approximately equal numbers. Anthropometric, biochemical and ultrasonographic features were compared across time periods.</p><p><strong>Statistical analysis used: </strong>The data were analysed using Chi-square and Kruskal-Wallis tests and the R v4.1.1 (R Core Team, 2021) software.</p><p><strong>Results: </strong>Mean body mass index increased from 26.40 ± 4.61 kg/m² (Period 1) to 28.42 ± 5.31 kg/m² (Period 3), <i>P</i> < 0.001. Waist circumference rose from 86.83 ± 11.18 cm to 90.78 ± 12.12 cm, <i>P</i> < 0.001. Abnormal glucose tolerance (glucose challenge test 75 g 2 h) (mg/dl) 129.95 ± 66.54 to 136.99 ± 44.37, <i>P</i> < 0.001 and fasting blood glucose (mgs/dl) 94.71 ± 17.36 to 94.91 ± 14.38, <i>P</i> < 0.001 also increased significantly. Family history of PCOS, diabetes mellitus, hypertension, obesity and dyslipidaemias significantly increased, indicating a rising prevalence of these conditions over time. Menstrual dysfunction remained consistently prevalent, with cycles of 60-90 days most frequent in Period 2 (59.1%). Metabolic syndrome prevalence increased from 36.5% to 45.6.</p><p><strong>Conclusion: </strong>Over the last 15 years, the metabolic and phenotypic profile of Indian women with PCOS has worsened significantly. These findings highlight the need for early lifestyle interventions and public health strategies targeting metabolic risk factors in this population.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 4","pages":"225-232"},"PeriodicalIF":1.1,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12815417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010373","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":"Prevalence and use of Alternative Medicine Treatments and Supplements in Couples with Infertility: A Cross-Sectional Study.","authors":"Aby Kottal Koshy, T S Anithadevi","doi":"10.4103/jhrs.jhrs_136_25","DOIUrl":"10.4103/jhrs.jhrs_136_25","url":null,"abstract":"<p><strong>Background: </strong>Use of indigenous and alternative medicines for illnesses is common in India. Studies on the use of complementary and alternative medicines (CAMs) in Western countries have shown that a significant percentage of men and women with infertility use alternative therapies. Unfortunately, there is no such data specific to the Indian population.</p><p><strong>Aim: </strong>The aim of this study was to assess the prevalence and use of CAM treatments and supplements in couples with infertility.</p><p><strong>Settings and design: </strong>The study was a prospective cross-sectional survey study conducted in an urban assisted reproductive centre attached to a private hospital.</p><p><strong>Materials and methods: </strong>All patients presenting with infertility of 1 year or more who consented to participate in the study were interviewed to collect anonymised data on their use of CAM for infertility treatment, including duration of use, treatment costs, adverse effects and information about the prescriber.</p><p><strong>Statistical analysis used: </strong>Data were analysed using SPSS v26. Descriptive statistics summarised demographics and use of CAM. Associations were tested using Fisher's Exact Test and Mann-Whitney <i>U</i>-test, with <i>P</i> < 0.05 considered statistically significant.</p><p><strong>Results: </strong>271 couples consented to the study. Most were well-educated, and dealing with primary infertility. CAM use was more common among women (10%) than men (5.5%), with Ayurveda being the most frequently used, followed by homeopathy. Herbal medicine use was rare. CAM usage was associated with longer durations of infertility in both genders, and with longer duration of marriage in men (<i>P</i> < 0.05). Most treatments were prescribed by doctors, with minimal use of unlicensed practitioners. No major adverse effects were reported.</p><p><strong>Conclusion: </strong>CAM use for infertility was less common than expected, and linked to longer infertility duration.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 4","pages":"218-224"},"PeriodicalIF":1.1,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12815423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010578","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":"Beyond the Inner Cell Mass: Evaluating the Impact of Inner Cell Mass Visibility on Implantation Prediction in Static Blastocyst Images.","authors":"Doel Bose Pande, Hemant Deshmukh, Sandeep Kumar Verma, Gajendra Singh Tomar","doi":"10.4103/jhrs.jhrs_197_25","DOIUrl":"10.4103/jhrs.jhrs_197_25","url":null,"abstract":"","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"187-188"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308238","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":"Fertility-sparing Management of Uterine Smooth Muscle Tumour of Uncertain Malignant Potential: A Case Report.","authors":"Kanishk Kumar Medhavi, Simantini Bose, Lisley Konar, Pooja Meena","doi":"10.4103/jhrs.jhrs_75_25","DOIUrl":"10.4103/jhrs.jhrs_75_25","url":null,"abstract":"<p><p>We report a case of a 35-year-old nulliparous woman diagnosed with a uterine smooth muscle tumour of uncertain malignant potential (STUMP) following abdominal myomectomy. Histopathology revealed diffuse atypia, a low mitotic index and no tumour cell necrosis. Immunohistochemistry supported a low-risk profile. The patient wished to preserve fertility and, following multidisciplinary input, opted for conservative management of the uterus with structured imaging surveillance and underwent oocyte cryopreservation. This case underscores the importance of individualised fertility-sparing strategies in low-risk STUMP and the critical need for long-term follow-up.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"181-184"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308319","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":"Investigating the Impact of <i>GNRH1</i> Polymorphism rs6185 in Women with Polycystic Ovary Syndrome through Association Study, Meta analysis and <i>In silico</i> Study.","authors":"Pallvi Thapar, Mandeep Kaur, Sukhjashanpreet Singh, Mrigakshi, Archana Beri, Anupam Kaur","doi":"10.4103/jhrs.jhrs_70_25","DOIUrl":"10.4103/jhrs.jhrs_70_25","url":null,"abstract":"<p><strong>Background: </strong>Hypothalamic pituitary gonadal axis plays a pivotal role in reproductive physiology, and gonadotropin-releasing hormone 1 (GNRH1) is considered to be the candidate gene in the regulation of the hypothalamic-pituitary-gonadal axis. GNRH1 encodes the pre-proprotein that is processed proteolytically to form the peptide GnRH1. Its polymorphisms may involve in the disruption of the luteinising hormone/follicle-stimulating hormone (LH/FSH) ratio and cause polycystic ovary syndrome (PCOS).</p><p><strong>Aim: </strong>The current study investigated the genetic association of rs6185 with PCOS. In addition, <i>in silico</i> analysis and meta-analysis were also performed to clearly understand the role of rs6185 in relation to PCOS.</p><p><strong>Settings and design: </strong>A total of 362 PCOS women and 328 healthy controls were analysed in a case control design.</p><p><strong>Materials and methods: </strong>GNRH1 polymorphism rs6185 was genotyped using the ARMS-PCR method. Lipid and hormonal profiles were measured to analyse the correlation between genotype and phenotype.</p><p><strong>Statistical analysis used: </strong>The Chi-square test compared genotypic and allelic frequencies between cases and controls, and the effect was estimated by calculating the Odds ratios at a 95% confidence interval. For meta-analysis, Review Manager 5.4.1 software was used.</p><p><strong>Results: </strong>In the present study, body mass index, waist-to-hip ratio, cholesterol, triglycerides, low-density lipoprotein (LDL), very LDL, LH and LH/FSH ratio were found to be higher in PCOS women. The significant difference in the distribution of the homozygous mutant genotype (GG) and mutant allele (G) of rs6185 was found between PCOS cases and controls (<i>P</i> = 0.047 and 0.037, respectively). The meta-analysis revealed a significant association of the recessive model of rs6185 with PCOS, and <i>in silico</i> predictions confirmed that the rs6185 polymorphism alters the mRNA secondary structure and slightly decreases the stability of protein.</p><p><strong>Conclusion: </strong>The present study demonstrates that there is a significant association of <i>GNRH1</i> polymorphism rs6185 with PCOS.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"156-165"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308241","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":"Beyond the Inner Cell Mass: Evaluating the Impact of Inner Cell Mass Visibility on Implantation Prediction in Static Blastocyst Images - A Retrospective Cohort Study.","authors":"Gaurav Majumdar","doi":"10.4103/jhrs.jhrs_192_25","DOIUrl":"10.4103/jhrs.jhrs_192_25","url":null,"abstract":"","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"185-186"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308310","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":"Evaluation of <i>In vitro</i> Vitamin D Supplementation and its Impact on Sperm Quality: A Controlled Experimental Study.","authors":"Chaimaa Hilali, Ez-Zahidy Douae, Chafika Nadifi, Houda Benrahma, Nouama Bouanani, Kettani Halabi Mohamed, Moncef Benkhalifa, Noureddine Louanjli, Fatima Azzahra Lahlou","doi":"10.4103/jhrs.jhrs_102_25","DOIUrl":"10.4103/jhrs.jhrs_102_25","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D, widely recognised for its role in bone health and immune function, has recently garnered significant interest for its potential impact on male reproductive health. Several studies have suggested that adequate Vitamin D levels may be associated with improved sperm quality and, consequently, enhanced male fertility.</p><p><strong>Aim: </strong>The study was conducted to evaluate the effects of different concentrations of Vitamin D on sperm parameters <i>in vitro</i>, including motility, viability, DNA fragmentation index (DFI) and sperm DNA decondensation index.</p><p><strong>Settings and design: </strong>This is a prospective <i>in vitro</i> study conducted on 100 semen samples, comprising 50 normozoospermic and 50 asthenozoospermic samples.</p><p><strong>Materials and methods: </strong>Sperm samples were incubated with different concentrations of Vitamin D (1.625 × 10^-1 M; 1.625 × 10^-2 M; 1.625 × 10^-3 M to 1.625 × 10^-4 M) for varying durations (5, 15 and 30 min). Following incubation, sperm motility, viability, DFI and sperm DNA decondensation index were assessed using standardised laboratory protocols.</p><p><strong>Statistical analysis used: </strong>Statistical analysis was performed using SPSS (version 27.0.1) with analysis of variance. Results were expressed as mean ± standard deviation, and <i>P</i> < 0.05 was considered significant.</p><p><strong>Results: </strong>A significant improvement in sperm motility was observed at a concentration of 1.625 × 10^-3 M in both normozoospermic and asthenozoospermic samples. No significant changes were noted in sperm viability across all tested concentrations. DFI and DNA decondensation index showed statistically significant improvements (<i>P</i> < 0.001) in both groups.</p><p><strong>Conclusion: </strong>Vitamin D supplementation <i>in vitro</i> demonstrated a positive effect on certain sperm quality parameters, particularly motility and DNA integrity. These findings indicate that Vitamin D could represent a promising approach for enhancing male fertility, although further studies on larger cohorts are warranted to confirm these results and establish clinical protocols.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"148-155"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308316","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":"Oocyte Cryopreservation Using Controlled Ovarian Stimulation in Premenarchal Adolescent Girls with Haemoglobinopathies Undergoing Hematopoietic Stem Cell Transplantation: A Case Series.","authors":"Sonu Balhara, Nalini Kaul Mahajan","doi":"10.4103/jhrs.jhrs_153_25","DOIUrl":"10.4103/jhrs.jhrs_153_25","url":null,"abstract":"<p><p>Survival in paediatric haemoglobinopathies like sickle cell disease and thalassemia major has improved due to curative hematopoietic stem cell transplantation. However, myeloablative chemotherapy regimens are gonadotoxic, increasing the risk of premature ovarian insufficiency. Ovarian tissue cryopreservation is commonly used for fertility preservation (FP) in prepubertal girls, but minimally invasive options like controlled ovarian stimulation (COS) and oocyte vitrification remain underexplored. We report two cases of oocyte cryopreservation in premenarchal girls (ages 12 and 15) with haemoglobinopathies. COS with hMG resulted in adequate follicular response and successful retrieval of mature oocytes. One patient underwent transvaginal retrieval, while the other required a transabdominal approach. Our experience suggests that with multidisciplinary coordination and careful hormonal assessment, COS and oocyte vitrification can be viable FP strategies in selected peri-pubertal patients.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"174-176"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308276","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":"Intramyometrial Pregnancy with Uterine Rupture at Second-trimester after Frozen Embryo Transfer.","authors":"Meenakshi Karan, Pranab Paladhi, Debapriya Kundu, Sunita Sharma","doi":"10.4103/jhrs.jhrs_127_25","DOIUrl":"10.4103/jhrs.jhrs_127_25","url":null,"abstract":"<p><p>Intramyometrial pregnancy is a rare type of ectopic pregnancy that is difficult to diagnose. We report a case of intramyometrial pregnancy with uterine rupture following frozen embryo transfer (FET), highlighting both the diagnostic challenges and the necessity for prompt surgical management. A 32-year-old woman with diffuse adenomyosis who had undergone <i>in vitro</i> fertilisation followed by FET presented at 14 weeks of pregnancy with acute abdominal pain and signs of hemoperitoneum. Imaging showed intra-abdominal bleeding and absent foetal cardiac activity. Laparoscopy revealed a rupture in the posterior uterine wall, with the placenta deeply embedded within the myometrium. Conservative surgical repair was successfully performed without necessitating a hysterectomy, and the patient fully recovered postoperatively. Although intramural pregnancy is rare, it is a potentially fatal form of ectopic pregnancy that can result in uterine rupture if left undiagnosed. Clinicians should maintain a high level of suspicion for early pregnancies achieved through assisted reproductive technologies, especially in patients with prior uterine procedures. Prompt recognition and timely surgical intervention can be lifesaving and preserve reproductive potential.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"18 3","pages":"177-180"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145308257","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}