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The relationship between vitamin D levels and erectile dysfunction: A mini-review. 维生素D水平与勃起功能障碍之间的关系:一个小型综述。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-03-21 DOI: 10.5653/cerm.2024.07402
Aamir Javed, Sanaz A Movassagh, Shilpa Doultani, Tulsi Kumari, Rishish Sharma, Md Kashif Zeya, Syed Waseem Andrabi, Kamal Saba

The importance of maintaining adequate levels of vitamin D for optimal male sexual health is highlighted by recent evidence suggesting a link between vitamin D insufficiency and erectile dysfunction (ED). This review examines current research that indicates an association between decreased serum concentrations of 25-hydroxyvitamin D (25(OH)D), specifically levels below 20 ng/mL, and a higher prevalence of ED, including severe cases. Studies have shown a significant correlation between a decrease of 10 ng/mL in 25(OH)D levels and a 12% increase in the prevalence of ED. The active form of vitamin D, calcitriol, facilitates the synthesis of nitric oxide, a potent vasodilator crucial for penile erection. Additionally, vitamin D supplementation has been shown to improve erectile function by enhancing endothelial vasodilation and arterial blood flow. It is essential to maintain serum 25(OH)D levels within the recommended range of 20 to 50 ng/mL, given the connection between vascular disorders and ED. A comprehensive approach, including dietary changes, consistent physical activity, and lifestyle modifications, is necessary to prevent ED. While vitamin D deficiency may contribute to ED, it is crucial to recognize that ED is multifactorial and should be addressed by considering all underlying causes. Individuals consistently experiencing symptoms of ED are advised to consult healthcare professionals for appropriate therapeutic interventions. This review emphasizes the importance of considering serum vitamin D levels when assessing male sexual health and calls for further research to clarify the role of vitamin D in the etiology and treatment of ED.

最近有证据表明,维生素 D 不足与勃起功能障碍(ED)之间存在联系,这凸显了维持充足的维生素 D 水平对男性最佳性健康的重要性。本综述探讨了当前的研究,这些研究表明血清中 25- 羟基维生素 D(25(OH)D)浓度的降低,特别是低于 20 纳克/毫升的水平,与较高的 ED 患病率(包括严重病例)之间存在关联。研究表明,25(OH)D 水平每降低 10 纳克/毫升,ED 患病率就会增加 12%,两者之间存在明显的相关性。维生素 D 的活性形式--钙三醇能促进一氧化氮的合成,而一氧化氮是一种对阴茎勃起至关重要的强效血管扩张剂。此外,补充维生素 D 还能增强内皮血管扩张和动脉血流,从而改善勃起功能。鉴于血管疾病与 ED 之间的联系,将血清 25(OH)D 水平保持在 20 至 50 纳克/毫升的推荐范围内至关重要。预防 ED 需要采取综合措施,包括改变饮食习惯、坚持体育锻炼和改变生活方式。虽然维生素 D 缺乏可能是导致 ED 的原因之一,但必须认识到 ED 是由多种因素造成的,因此应通过考虑所有潜在原因来解决这一问题。建议持续出现 ED 症状的患者咨询医疗保健专业人员,以采取适当的治疗干预措施。本综述强调了在评估男性性健康时考虑血清维生素 D 水平的重要性,并呼吁开展进一步研究,以明确维生素 D 在 ED 病因学和治疗中的作用。
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引用次数: 0
Formulation of Paeonia lactiflora root extract can induce atrophy of endometriotic lesions and accelerate embryo implantation following in vitro fertilization in endometriosis: An experimental study. 芍药根提取物配方可诱导子宫内膜异位症体外受精后子宫内膜病变萎缩,加速胚胎着床的实验研究。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-07-22 DOI: 10.5653/cerm.2024.07374
Amir Abdolmaleki, Hadis Amirsayyafi, Saeed Khazaiel, Cyrus Jalili, Kamran Mansourhi, Mitra Bakhtiari

Objective: Endometriosis (Endo) involves inflammation and angiogenesis within lesions, potentially causing embryo implantation failure. Paeonia lactiflora (PL) root exhibits anti-angiogenic and anti-inflammatory properties. This experiment investigated the therapeutic effects of PL on endometriotic lesion atrophy and embryo implantation following in vitro fertilization (IVF).

Methods: Female mice (n=32) were allocated into treatment and sham groups. Endo was induced through xenograft transplantation of rat endometrium to anterior abdominal walls of recipient (Endo) mice. PL root was extracted, phytochemically characterized, and orally administered (1.06 mg PL/20 g mouse) for 17 consecutive days. Through IVF, cultured mouse embryos were implanted into Endo mouse uteri. Ten days post-IVF, samples were collected, including intra-abdominal fluid for measurement of vascular endothelial growth factor (VEGF) and tumor necrosis factor α (TNF-α) using enzyme-linked immunosorbent assay. Embryo-containing uteri underwent trypan blue staining, while uterus fragments were stained with hematoxylin and eosin and analyzed for leukemia inhibitory factor (LIF) gene expression using quantitative polymerase chain reaction. The number of embryo implantation sites and diameter of endometriotic lesions were recorded. Data were analyzed using SPSS ver. 19, with p-values <0.05 considered to indicate statistical significance.

Results: Following Endo induction, TNF-α and VEGF levels and lesion diameter increased (p<0.05). LIF gene expression and embryo implantation rate decreased (p<0.05). After PL extract administration to Endo mice, TNF-α levels, VEGF levels, and lesion diameter decreased (p<0.05), while LIF gene expression and implantation rate increased (p<0.05).

Conclusion: PL extract (1.06 mg/20 g mouse) decreases TNF-α and VEGF levels, suppressing inflammation and angiogenesis and causing endometriotic lesion atrophy. Furthermore, PL increases uterine LIF gene expression, promoting successful implantation post-IVF in Endo mice.

目的:子宫内膜异位症(Endo)涉及病变内的炎症和血管生成,可能导致胚胎着床失败。芍药根具有抗血管生成和抗炎作用。本实验探讨了丙二醇对体外受精后子宫内膜异位症病变萎缩及胚胎着床的治疗作用。方法:将32只雌性小鼠分为治疗组和假手术组。通过异种移植大鼠子宫内膜到受体(远藤)小鼠前腹壁诱导远藤。提取荷兰根,对其进行植物化学表征,并连续17天口服(1.06 mg PL/20 g小鼠)。通过体外受精,将培养的小鼠胚胎植入远藤小鼠子宫。体外受精10天后,收集标本,包括腹腔内液,采用酶联免疫吸附法测定血管内皮生长因子(VEGF)和肿瘤坏死因子α (TNF-α)。含胚子宫行台盼蓝染色,子宫碎片行苏木精和伊红染色,定量聚合酶链反应分析白血病抑制因子(LIF)基因表达。记录胚胎着床部位数和子宫内膜异位症病变直径。数据采用SPSS ver进行分析。结果:Endo诱导后,肿瘤坏死因子(TNF-α)和血管内皮生长因子(VEGF)水平升高,病变直径增大(p)。结论:白藜芦醇提取物(1.06 mg/20 g小鼠)可降低肿瘤坏死因子(TNF-α)和血管内皮生长因子(VEGF)水平,抑制炎症和血管生成,引起子宫内膜异位症病变萎缩。此外,PL增加子宫LIF基因表达,促进远藤小鼠体外受精后成功着床。
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引用次数: 0
Oxidative stress and its correlation with sperm parameters in different semen quality groups. 不同精液质量组的氧化应激及其与精子参数的关系。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-05-20 DOI: 10.5653/cerm.2024.07668
Maroua Ben Rhouma, Hatem Bahri, Mustapha Ben Khalifa, Mohsen Sakly, Khémais Ben Rhouma, Moncef Benkhalifa, Olfa Tebourbi

Objective: This study investigated oxidative stress and its impact on sperm quality in men with infertility, focusing on lipid peroxidation and the activity of antioxidant enzymes-catalase (CAT), superoxide dismutase (SOD), and glutathione peroxidase (GPx)-in seminal fluid.

Methods: This study was conducted from January 2021 to January 2023 and involved 163 male patients who had been experiencing infertility for over a year. The participants were categorized according to semen quality. Semen samples were analyzed for sperm concentration, motility, and morphology following the World Health Organization guidelines. Oxidative stress was evaluated by measuring levels of malondialdehyde (MDA), an indicator of lipid peroxidation, as well as the activity of CAT, SOD, and GPx. Ethical approval and informed consent were obtained from all participants.

Results: Semen quality and oxidative stress were evaluated in cases of male infertility, with patients categorized into five groups: normozoospermia, oligozoospermia, asthenozoospermia, teratozoospermia, and oligo-astheno-teratozoospermia. The pathological groups exhibited significant reductions in sperm count, motility, and morphology. Additionally, lipid peroxidation, as shown by increased MDA levels, was significantly elevated in all pathological groups. The activities of CAT, SOD, and GPx were significantly diminished in these groups, with the most substantial declines noted in the oligo-astheno-teratozoospermia group.

Conclusion: Oxidative stress, indicated by elevated MDA levels, was correlated with poor sperm quality. The decreased activity of antioxidant enzymes in pathological semen implies that a weakened antioxidant defense contributes to sperm dysfunction. These findings suggest that antioxidant interventions could improve sperm quality in men experiencing infertility, though additional research is required.

目的:探讨氧化应激对不育男性精子质量的影响,重点研究精液中脂质过氧化和抗氧化酶——过氧化氢酶(CAT)、超氧化物歧化酶(SOD)和谷胱甘肽过氧化物酶(GPx)的活性。方法:本研究于2021年1月至2023年1月进行,纳入163例男性不育症患者一年以上。参与者根据精液质量进行分类。按照世界卫生组织的指导方针,对精液样本进行精子浓度、活力和形态分析。通过测量丙二醛(MDA)水平(脂质过氧化指标)以及CAT、SOD和GPx的活性来评估氧化应激。获得所有参与者的伦理批准和知情同意。结果:对男性不育症患者的精液质量和氧化应激进行了评价,将患者分为五组:无精子症、少精子症、弱精子症、畸形精子症和少-弱-畸形精子症。病理组表现出精子数量、活力和形态的显著减少。此外,脂质过氧化,如MDA水平升高所示,在所有病理组中均显著升高。CAT、SOD和GPx活性在这些组中均显著降低,其中以少弱畸形精子症组下降最为明显。结论:以MDA水平升高为指标的氧化应激与精子质量差有关。病理精液中抗氧化酶活性的降低表明抗氧化防御能力的减弱导致了精子功能障碍。这些发现表明,抗氧化剂干预可以改善不育男性的精子质量,尽管还需要进一步的研究。
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引用次数: 0
Effects of platelet-rich plasma as a new additive on human embryo development and clinical outcomes. 富血小板血浆作为一种新的添加剂对人胚胎发育和临床结果的影响。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-11-24 DOI: 10.5653/cerm.2025.08228
Chang-Seop Hyun, Mi-Ji Park, Eun-Jeong Jang, An-Na Kim, Seong-Ho Yang, Yong-Soo Hur, Yeong-Je Gang, Jin-Ho Lim

Objective: In this study, we investigated whether adding autologous platelet-rich plasma (PRP) to the culture medium affects embryo development and clinical outcomes in patients with recurrent implantation failure (RIF).

Methods: This study included 201 patients with previous RIF. Of these, 77 opted to receive the treatment and were assigned to the PRP group, and 124 declined and were assigned to the control group. In the PRP group, normally fertilized embryos were cultured in medium supplemented with 5% PRP, whereas embryos in the control group were cultured without PRP. Embryo transfer was performed on day 3 after evaluation of embryo quality. A comparative analysis was then conducted between the two groups, focusing on embryo quality and clinical outcomes.

Results: Although no significant differences were observed in fertilization or cleavage rates, the PRP group had a significantly higher proportion of good-quality embryos with at least six cells on day 3 than the control group. The clinical pregnancy and implantation rates in the PRP group were also significantly higher than those in the control group. Furthermore, the ongoing pregnancy rate was notably higher in the PRP group, and successful live births were achieved. Miscarriage rates were similar between groups.

Conclusion: Incorporating PRP as an additive into the culture medium improved embryo quality and increased implantation, clinical pregnancy, and ongoing pregnancy rates.

目的:本研究探讨在培养基中添加自体富血小板血浆(PRP)对复发性着床失败(RIF)患者胚胎发育和临床结局的影响。方法:本研究纳入201例既往RIF患者。其中,77人选择接受治疗并被分配到PRP组,124人拒绝接受治疗并被分配到对照组。在PRP组中,正常受精的胚胎在添加5% PRP的培养基中培养,而对照组的胚胎在不添加PRP的培养基中培养。评估胚胎质量后,于第3天进行胚胎移植。然后对两组进行比较分析,重点关注胚胎质量和临床结果。结果:虽然在受精率和卵裂率方面没有观察到显著差异,但PRP组在第3天具有至少6个细胞的优质胚胎比例明显高于对照组。PRP组临床妊娠和着床率均显著高于对照组。此外,PRP组的持续妊娠率明显较高,并实现了成功的活产。两组之间的流产率相似。结论:在培养基中添加PRP可提高胚胎质量,提高着床率、临床妊娠率和持续妊娠率。
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引用次数: 0
The value of endometrial scratch injury in infertile women trying to conceive through non-in vitro fertilization cycles: A systematic review and meta-analysis. 子宫内膜划伤对试图通过非体外受精周期怀孕的不孕症妇女的价值:一项系统综述和荟萃分析。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-07-10 DOI: 10.5653/cerm.2024.07612
Nour A M El-Goly, Ahmed M Maged, Nehal Bassiouny, Safaa I Mahmoud, Amira Shoab

To assess the effects of endometrial scratch injury (ESI) in infertile couples seeking fertility through non-in vitro fertilization (IVF) cycles. We conducted a comprehensive search of MEDLINE, EMBASE, Web of Science, Scopus, the Cochrane Library, and Google Scholar from their inception through August 2023. The search terms included 'endometrial scratch,' 'infertility,' 'implantation,' 'intrauterine insemination (IUI),' and their corresponding MeSH terms. We included all published and unpublished randomized controlled trials involving ESI in women undergoing either natural or IUI cycles. The ESIs varied in severity and were performed during either the follicular or luteal phase of the same or preceding cycle. Our review encompassed 32 studies, totaling 5,897 participants. Of these, seven studies with 1,094 participants assessed ESI in natural cycles, while 25 studies with 4,803 participants evaluated it in IUI cycles. The data extracted included trial location, number of participants, inclusion and exclusion criteria for participants, details of the ESI, and outcome parameters (trial registration: CRD42023434127). ESI significantly increased the clinical pregnancy rate (odds ratio [OR], 2.06; 95% confidence interval [CI], 1.72 to 2.47; p<0.001), ongoing pregnancy/live birth rate (OR, 1.68; 95% CI, 1.32 to 2.13; p<0.001), and chemical pregnancy rate (OR, 2.32; 95% CI, 1.79 to 3.00; p<0.001). However, it had no significant effect on the rates of multiple pregnancy, miscarriage, and ectopic pregnancy (p>0.05). ESI improved the clinical pregnancy rate, ongoing pregnancy/live birth rate, and chemical pregnancy rate in both natural and IUI cycles.

评估子宫内膜划伤(ESI)对通过非体外受精(IVF)周期寻求生育的不育夫妇的影响。我们对MEDLINE、EMBASE、Web of Science、Scopus、Cochrane Library和谷歌Scholar从成立到2023年8月进行了全面的检索。搜索词包括“子宫内膜划伤”、“不孕”、“植入”、“宫内人工授精(IUI)”以及相应的MeSH术语。我们纳入了所有已发表和未发表的随机对照试验,这些试验涉及ESI在自然周期或人工授精周期妇女中的应用。妊娠的严重程度不同,在同一周期或前一个周期的卵泡期或黄体期进行。我们的综述包括32项研究,总共5897名参与者。其中,7项研究(1094名参与者)评估了自然周期中的ESI,而25项研究(4803名参与者)评估了IUI周期中的ESI。提取的数据包括试验地点、受试者人数、受试者的纳入和排除标准、ESI详细信息和结局参数(试验注册号:CRD42023434127)。ESI显著提高临床妊娠率(优势比[OR], 2.06; 95%可信区间[CI], 1.72 ~ 2.47; p0.05)。ESI提高了自然周期和人工授精周期的临床妊娠率、持续妊娠/活产率和化学妊娠率。
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引用次数: 0
Assisted reproductive technology trends in Korea: Annual report for 2022. 韩国的辅助生殖技术趋势:2022年年度报告。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 DOI: 10.5653/cerm.2025.08872
Dayong Lee, Myeong Eun Seong, Hye Jin Chang, Young Sik Choi, Hee Jin Lim, Youngjun Choi, Kyungjoo Hwang, Jin Suk Jo, Jung Ryeol Lee

Objective: The Korean government implemented national insurance coverage for infertility treatment in 2017 and established a nationwide infertility treatment data collection system in 2018. This report analyzes infertility treatment cycles performed in 2022 based on this national registry.

Methods: Data were retrospectively collected from 201 certified infertility treatment institutions in Korea. Standardized treatment forms for intrauterine insemination (IUI) and in vitro fertilization (IVF) were submitted to the Health Insurance Review and Assessment Service for all infertility treatment cycles conducted in 2022.

Results: A total of 200,007 infertility treatment cycles were reported in 2022, consisting of 33,137 IUI cycles and 166,870 IVF cycles. Among IVF cycles, 64.6% were initiated for fresh embryo transfers and 35.4% for frozen-thawed embryo transfers. In IVF cycles, the overall clinical pregnancy rate per embryo transfer was 30.2% for fresh and 42.0% for frozen-thawed embryo transfers. The proportion of single embryo transfers has risen steadily since 2019. The most common indication for IVF was diminished ovarian reserve, while IUI was mainly performed for unexplained or male factor infertility.

Conclusion: Nationwide infertility treatment cycle reporting in Korea has enabled detailed monitoring of infertility treatment trends and outcomes. The data show a substantial increase in IVF utilization, a growing preference for frozen-thawed embryo transfer, and broader adoption of single embryo transfer consistent with global practices. Further integration with birth outcome data and longitudinal patient tracking will be essential to evaluate cumulative success rates and overall effectiveness. This national registry provides a foundation for optimizing infertility care and facilitates international benchmarking.

目的:韩国政府于2017年实施了不孕症治疗国民保险覆盖,并于2018年建立了全国范围内的不孕症治疗数据收集系统。本报告基于这一国家登记处分析了2022年进行的不孕症治疗周期。方法:回顾性收集韩国201家经认证的不孕症治疗机构的资料。针对2022年进行的所有不孕症治疗周期,向健康保险审查和评估处提交了宫内人工授精和体外受精的标准化治疗表格。结果:2022年共报告不孕症治疗周期200,007例,其中IUI周期33,137例,IVF周期166,870例。在试管婴儿周期中,64.6%为新鲜胚胎移植,35.4%为冷冻解冻胚胎移植。在IVF周期中,每次胚胎移植的总临床妊娠率新鲜胚胎移植为30.2%,冻融胚胎移植为42.0%。自2019年以来,单胚胎移植的比例稳步上升。IVF最常见的适应症是卵巢储备减少,而IUI主要用于不明原因或男性因素不育。结论:在韩国,全国范围内的不孕症治疗周期报告能够详细监测不孕症治疗趋势和结果。数据显示,体外受精的使用大幅增加,对冷冻解冻胚胎移植的偏好日益增加,单胚胎移植的采用也越来越广泛,与全球惯例一致。进一步整合出生结果数据和纵向患者跟踪对于评估累积成功率和总体有效性至关重要。这个国家登记为优化不孕症护理和促进国际基准提供了基础。
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引用次数: 0
Long-term use of dutasteride to treat androgenic alopecia in young men may lead to persistent abnormalities in semen parameters. 长期使用杜他雄胺治疗年轻男性雄激素性脱发可能导致精液参数持续异常。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-03-21 DOI: 10.5653/cerm.2024.07675
Young Jae Kim, Seoung Ryeol Lee, Young Dong Yu

Objective: To evaluate the long-term effects of dutasteride on male fertility and determine the cutoff treatment duration that causes significant and persistent decreases in semen parameters.

Methods: This was a single-center, randomized, controlled study that evaluated 200 men (ages 28 to 39 years). Forty men were allocated to each study group, divided according to the duration of dutasteride treatment, as follows: <6 months (group 1), 6-12 months (group 2), 13-18 months (group 3), 19-24 months (group 4), and >24 months (group 5). All subjects received dutasteride 0.5 mg/day for management of androgenetic alopecia then discontinued dutasteride for 6 months.

Results: The baseline mean testosterone level in the study subjects was 4.8 ng/mL. No significant differences were found between study groups in sperm concentration, normal morphology, and vitality. Semen volume and sperm total/progressive motility were significantly reduced as the duration of dutasteride treatment increased. All study groups showed an increase in total sperm motility and semen volume after discontinuation of dutasteride. Compared with group 1, groups 2-5 showed significant decreases in semen volume and sperm total motility, with the odds ratios becoming smaller as the duration of dutasteride treatment increased. Receiver operating characteristic analysis showed the cutoff values for persistent impairment of semen volume and total sperm motility to be 17.8 and 20.3 months, respectively.

Conclusion: Long-term use of dutasteride may lead to male infertility by persistently impairing semen volume and sperm motility.

目的:评价杜他雄胺对男性生育能力的长期影响,确定导致精液参数显著且持续下降的截止治疗时间。方法:这是一项单中心、随机对照研究,评估了200名男性(年龄28至39岁)。40名男性被分配到每个研究组,根据杜他雄胺治疗的持续时间进行分组,如下:24个月(第5组)。所有受试者接受0.5 mg/天的杜他雄胺治疗雄激素性脱发,然后停用杜他雄胺6个月。结果:研究对象的基线平均睾酮水平为4.8 ng/mL。在精子浓度、正常形态和活力方面,研究组之间没有发现显著差异。随着杜他雄胺治疗时间的延长,精液量和精子总活力/进行性活力显著降低。所有研究组均显示停药后总精子活力和精液量增加。与1组相比,2 ~ 5组患者精液量和精子总活力显著降低,且优势比随杜他雄胺治疗时间的延长而减小。受试者工作特征分析显示,精液量和总精子活力持续受损的临界值分别为17.8个月和20.3个月。结论:长期使用杜他雄胺可导致男性不育,持续影响精液量和精子活力。
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引用次数: 0
WT1 pathogenic variant in azoospermic infertile men with an isolated undescended testis. WT1致病性变异在无精子不育男性与孤立的隐睾。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-12-01 Epub Date: 2025-05-20 DOI: 10.5653/cerm.2024.07584
Neda Sharifi, Parnaz Borjian Boroujeni, Kaveh Haratian, Marjan Sabbaghian, Anahita Mohseni Meybodi

Objective: An undescended testis (UDT) is a testicle that has not moved into the scrotum before birth. UDTs are linked to reduced fertility, primarily due to compromised semen quality and potential dysfunction in Sertoli and Leydig cells. Additionally, the Wilms tumor 1 (WT1) gene is crucial for spermatogenesis, as it regulates the polarity of Sertoli cells and the steroidogenesis in Leydig cells. Our study aimed to identify novel UDT-causing WT1 variants within a cohort of 60 unrelated men with infertile hypergonadotropic hypogonadism.

Methods: In this case-control study, the coding regions and the intronic boundaries of the second and ninth exon of WT1 were sequenced using Sanger sequencing. DNA from 60 fertile men served as the control group. In silico analysis of the variants was also conducted.

Results: The study identified multiple intronic and exonic variations in both the patient and control groups. Notably, a haplotype consisting of two heterozygous C>T variations in the intronic region of the splice donor site of exon 9 was observed in 11 patients but was absent in the control group. Of these variations, only one has been previously reported in Single Nucleotide Polymorphism Database (dbSNP) as rs587776576 (NC_000011.10: g.32391967C>T; NM_000378.4:c.1372+14G>A).

Conclusion: The rs587776576 mutation is pathogenic. It exhibited a significant association (p=0.022), indicating its association with infertility and UDT in the Iranian population. This research could broaden the spectrum of WT1 variations and underscore the importance of these variants in the genetic etiology of UDT and infertility. These findings provide a foundation for clinical diagnosis and genetic counseling.

目的:隐睾(UDT)是指出生前未进入阴囊的睾丸。udt与生育能力下降有关,主要是由于精液质量受损以及睾丸和间质细胞的潜在功能障碍。此外,Wilms tumor 1 (WT1)基因对精子发生至关重要,因为它调节支持细胞的极性和间质细胞的甾体生成。我们的研究目的是在60名不育性促性腺功能亢进性性腺功能减退症的无亲缘关系男性队列中确定新的引起udt的WT1变异。方法:采用Sanger测序法对WT1基因第2和第9外显子的编码区和内含子边界进行测序。60名有生育能力的男性的DNA作为对照组。还对变异进行了计算机分析。结果:该研究在患者和对照组中发现了多个内含子和外显子变异。值得注意的是,11例患者在第9外显子剪接供体位点的内含子区观察到由两个杂合C>T变异组成的单倍型,但在对照组中不存在。在这些变异中,只有一个在单核苷酸多态性数据库(dbSNP)中被报道为rs587776576 (NC_000011.10: g.32391967C>T;NM_000378.4: c.1372 + 14 g >)。结论:rs587776576突变具有致病性。它显示出显著的相关性(p=0.022),表明它与伊朗人群中的不孕症和UDT有关。这项研究可以拓宽WT1变异的范围,并强调这些变异在UDT和不孕症的遗传病因学中的重要性。这些发现为临床诊断和遗传咨询提供了依据。
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引用次数: 0
A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y). 一种非常罕见的女性表型,具有复杂的染色体嵌合:46,XY/45,X/46,X,r(Y)。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-11-25 DOI: 10.5653/cerm.2025.08011
Zohreh Maghsoomi, Maryam Abiri, Fatemeh Golgiri, Hamed Iraji, Seyyed Mohammad Ghahestani, Fatemeh Tajikrostami, Nikoo Emtiazi, Maryam Eghbali

Objective: Mixed gonadal dysgenesis is characterized by abnormal genital appearance and chromosomal mosaicism. A wide spectrum of clinical manifestations can occur, ranging from females (with or without Turner syndrome) to phenotypically normal males with some degree of genital ambiguity. In this context, uncommon mosaic karyotypes are associated with distinctive phenotypic characteristics. Here, we present the case of an 18-year-old girl with primary amenorrhea, delayed puberty, and a rare mosaic karyotype pattern.

Methods: Clinical data were collected, and karyotyping was performed on peripheral blood samples. Polymerase chain reaction amplification for the sex-determining region Y protein (SRY) gene was also conducted.

Results: The patient presented with delayed puberty and primary amenorrhea. Her hormonal profile was consistent with hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a small uterus. Echocardiography identified the presence of a bicuspid aortic valve. Karyotyping demonstrated a 46,XY/45,X/46,X,r(Y) pattern, indicating mosaicism for monosomy X and two cell lines: 45,X and 46,X,r(Y). The SRY gene was detected. Gonadal pathological investigation confirmed streak gonads consistent with gonadal dysgenesis and evidence of gonadoblastoma.

Conclusion: Complicated cases with mosaic chromosomal patterns can exhibit a wide range of phenotypic features, from apparently normal males with variable external genitalia to females with or without characteristics of Turner syndrome. These phenotypic discrepancies are not directly related to the number of mosaic cells or the specific location of Y chromosome breakage. Therefore, in cases of primary amenorrhea with genotype-phenotype discrepancies, a multidisciplinary approach is essential to guide appropriate sex determination and management.

目的:混合性性腺发育不良以生殖器官外观异常和染色体嵌合为特征。广泛的临床表现可能出现,从女性(有或没有特纳综合征)到具有一定程度生殖器模糊的表型正常男性。在这种情况下,不常见的镶嵌核型与独特的表型特征有关。在这里,我们提出的情况下,18岁的女孩原发性闭经,青春期延迟,和一个罕见的马赛克核型模式。方法:收集临床资料,对患者外周血进行核型分析。对性别决定区Y蛋白(SRY)基因进行聚合酶链反应扩增。结果:患者表现为青春期延迟,原发闭经。她的激素特征符合促性腺激素亢进性性腺功能减退。盆腔磁共振成像显示子宫小。超声心动图发现存在二尖瓣主动脉瓣。核型显示为46,XY/45,X/46,X,r(Y)模式,表明X单体和45,X和46,X,r(Y)两个细胞系嵌合。检测到SRY基因。性腺病理检查证实条纹性腺符合性腺发育不良和性腺母细胞瘤的证据。结论:具有马赛克染色体模式的复杂病例可以表现出广泛的表型特征,从表面上正常的男性外生殖器变化到具有或不具有特纳综合征特征的女性。这些表型差异与马赛克细胞的数量或Y染色体断裂的特定位置没有直接关系。因此,在原发性闭经与基因型-表型差异的情况下,多学科的方法是必要的,以指导适当的性别确定和管理。
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引用次数: 0
The impact of probiotics on testosterone synthesis in the TM3 cell line. 益生菌对TM3细胞系睾酮合成的影响。
IF 1.6 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2025-11-25 DOI: 10.5653/cerm.2025.08095
Yu Ha Shim, JuYi Jang, Ilseon Jung, Yu Jin Kim, Yun Dong Koo, Tae Ho Lee, Jae Ho Lee, Dae Keun Kim

Objective: This study aimed to investigate the effects of specific probiotic strains on the endocrine activity of Leydig cells, which are essential for testosterone production. We focused on the potential influence of probiotics on testosterone synthesis and mitochondrial functionality within these cells.

Methods: The TM3 Leydig cell line was utilized to assess the effects of three probiotic strains: Lacticaseibacillus rhamnosus, Limosilactobacillus fermentum, and Bifidobacterium longum subsp. longum. The analyses evaluated key aspects of Leydig cell function, including endocrine signaling pathways, cellular proliferation, gene and protein expression related to testosterone biosynthesis, and mitochondrial function.

Results: The probiotic strains significantly enhanced the expression of key proteins involved in testosterone synthesis and upregulated mitochondrial activity compared to control cells. Notably, these effects were observed across all three probiotic strains, suggesting a positive impact on both testosterone production and mitochondrial function.

Conclusion: The findings suggest that probiotic supplementation can modulate testosterone synthesis and improve mitochondrial functionality in Leydig cells. These results underscore the potential of probiotics as modulators of male reproductive health, with possible therapeutic applications in conditions such as male hypogonadism.

目的:本研究旨在探讨特定益生菌菌株对睾丸激素分泌所必需的间质细胞内分泌活性的影响。我们关注益生菌对这些细胞内睾酮合成和线粒体功能的潜在影响。方法:利用TM3间质细胞株,对鼠李糖乳杆菌、发酵乳酸杆菌和长双歧杆菌3株益生菌的作用进行了评价。longum。分析评估了间质细胞功能的关键方面,包括内分泌信号通路、细胞增殖、与睾酮生物合成相关的基因和蛋白质表达以及线粒体功能。结果:与对照细胞相比,益生菌菌株显著提高了参与睾酮合成的关键蛋白的表达,并上调了线粒体活性。值得注意的是,在所有三种益生菌菌株中都观察到这些影响,这表明对睾丸激素产生和线粒体功能都有积极影响。结论:补充益生菌可调节睾丸激素合成,改善间质细胞线粒体功能。这些结果强调了益生菌作为男性生殖健康调节剂的潜力,可能在男性性腺功能减退等疾病的治疗中应用。
{"title":"The impact of probiotics on testosterone synthesis in the TM3 cell line.","authors":"Yu Ha Shim, JuYi Jang, Ilseon Jung, Yu Jin Kim, Yun Dong Koo, Tae Ho Lee, Jae Ho Lee, Dae Keun Kim","doi":"10.5653/cerm.2025.08095","DOIUrl":"https://doi.org/10.5653/cerm.2025.08095","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate the effects of specific probiotic strains on the endocrine activity of Leydig cells, which are essential for testosterone production. We focused on the potential influence of probiotics on testosterone synthesis and mitochondrial functionality within these cells.</p><p><strong>Methods: </strong>The TM3 Leydig cell line was utilized to assess the effects of three probiotic strains: Lacticaseibacillus rhamnosus, Limosilactobacillus fermentum, and Bifidobacterium longum subsp. longum. The analyses evaluated key aspects of Leydig cell function, including endocrine signaling pathways, cellular proliferation, gene and protein expression related to testosterone biosynthesis, and mitochondrial function.</p><p><strong>Results: </strong>The probiotic strains significantly enhanced the expression of key proteins involved in testosterone synthesis and upregulated mitochondrial activity compared to control cells. Notably, these effects were observed across all three probiotic strains, suggesting a positive impact on both testosterone production and mitochondrial function.</p><p><strong>Conclusion: </strong>The findings suggest that probiotic supplementation can modulate testosterone synthesis and improve mitochondrial functionality in Leydig cells. These results underscore the potential of probiotics as modulators of male reproductive health, with possible therapeutic applications in conditions such as male hypogonadism.</p>","PeriodicalId":46409,"journal":{"name":"Clinical and Experimental Reproductive Medicine-CERM","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145597482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Clinical and Experimental Reproductive Medicine-CERM
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