PDF(Pubmed)
Abstract：
Klinefelter\'s syndrome (KS) was once considered infertile due to congenital chromosomal abnormalities, but the presence of focal spermatozoa changed this. The key to predict and promote spermatogenesis is to find targets that regulate focal spermatogenesis.
To explore the trend of fertility changes in KS patients at different ages and identify potential therapeutic targets.
Bibliometric analysis was used to collect clinical research data on KS from the Web of Science Core Collection (WoSCC) from 1992 to 2022. A cross-sectional study was conducted on 75 KS patients who underwent microscopic testicular sperm extraction (mTESE) from 2017 to 2022 in the real world. The reproductive hormones, testicular histopathology, androgen receptors, insulin-like factor 3 (INSL3) receptors and sperm recovery rate (SRR) were analyzed.
Male infertility, dysplasia, Sertoli cells, Leydig cells, testosterone and spermatogenesis were the research focuses related to KS. Luteinizing hormone (LH), testosterone, and INSL3 were evaluation indicators of Leydig cell function that fluctuate with age. Testosterone and LH peaked at ages 13-19 and 30-45, while INSL3 only peaked at ages 13-19. 27 patients (27/75) recovered sperm through mTESE and experienced SRR peaks at the ages of 20, 28, 34, and 37. The SRR of fibrosis patients was 46.15%, fatty degeneration was 7.14%, and melanosis was 40.00%. The INSL3 and androgen receptors were highly expressed and roughly balanced in focal spermatogenesis.
Abnormal metabolism of Leydig cells led to imbalanced expression of INSL3 and androgen receptors, which might be a potential target for spermatogenesis in KS.
To explore the trend of fertility changes in KS patients at different ages and identify potential therapeutic targets.
Bibliometric analysis was used to collect clinical research data on KS from the Web of Science Core Collection (WoSCC) from 1992 to 2022. A cross-sectional study was conducted on 75 KS patients who underwent microscopic testicular sperm extraction (mTESE) from 2017 to 2022 in the real world. The reproductive hormones, testicular histopathology, androgen receptors, insulin-like factor 3 (INSL3) receptors and sperm recovery rate (SRR) were analyzed.
Male infertility, dysplasia, Sertoli cells, Leydig cells, testosterone and spermatogenesis were the research focuses related to KS. Luteinizing hormone (LH), testosterone, and INSL3 were evaluation indicators of Leydig cell function that fluctuate with age. Testosterone and LH peaked at ages 13-19 and 30-45, while INSL3 only peaked at ages 13-19. 27 patients (27/75) recovered sperm through mTESE and experienced SRR peaks at the ages of 20, 28, 34, and 37. The SRR of fibrosis patients was 46.15%, fatty degeneration was 7.14%, and melanosis was 40.00%. The INSL3 and androgen receptors were highly expressed and roughly balanced in focal spermatogenesis.
Abnormal metabolism of Leydig cells led to imbalanced expression of INSL3 and androgen receptors, which might be a potential target for spermatogenesis in KS.
摘要：
■Klinefelter综合征（KS）曾经被认为是由于先天性染色体异常导致的不育，但是局灶性精子的存在改变了这一点。预测和促进精子发生的关键是寻找调控局灶性精子发生的靶点。
■探讨不同年龄段KS患者的生育力变化趋势，并确定潜在的治疗目标。
■使用文献计量分析从1992年至2022年的WebofScienceCoreCollection（WoSCC）收集了有关KS的临床研究数据。对2017年至2022年在现实世界中接受显微睾丸精子提取（mTESE）的75名KS患者进行了横断面研究。生殖激素，睾丸组织病理学,雄激素受体，分析胰岛素样因子3（INSL3）受体和精子恢复率（SRR）。
■男性不育,发育不良,支持细胞,Leydig细胞,睾酮和精子发生是与KS相关的研究热点。促黄体生成素(LH),睾丸激素，和INSL3是Leydig细胞功能的评价指标，随年龄波动。睾酮和LH在13-19岁和30-45岁达到峰值，而INSL3仅在13-19岁达到峰值。27名患者（27/75）通过mTESE恢复了精子，并在20、28、34和37岁时经历了SRR高峰。纤维化患者的SRR为46.15%,脂肪变性为7.14%,黑变病为40.00%。INSL3和雄激素受体在局灶性精子发生中高表达且大致平衡。
■睾丸间质细胞代谢异常导致INSL3和雄激素受体表达失衡，这可能是KS精子发生的潜在靶标。
■探讨不同年龄段KS患者的生育力变化趋势，并确定潜在的治疗目标。
■使用文献计量分析从1992年至2022年的WebofScienceCoreCollection（WoSCC）收集了有关KS的临床研究数据。对2017年至2022年在现实世界中接受显微睾丸精子提取（mTESE）的75名KS患者进行了横断面研究。生殖激素，睾丸组织病理学,雄激素受体，分析胰岛素样因子3（INSL3）受体和精子恢复率（SRR）。
■男性不育,发育不良,支持细胞,Leydig细胞,睾酮和精子发生是与KS相关的研究热点。促黄体生成素(LH),睾丸激素，和INSL3是Leydig细胞功能的评价指标，随年龄波动。睾酮和LH在13-19岁和30-45岁达到峰值，而INSL3仅在13-19岁达到峰值。27名患者（27/75）通过mTESE恢复了精子，并在20、28、34和37岁时经历了SRR高峰。纤维化患者的SRR为46.15%,脂肪变性为7.14%,黑变病为40.00%。INSL3和雄激素受体在局灶性精子发生中高表达且大致平衡。
■睾丸间质细胞代谢异常导致INSL3和雄激素受体表达失衡，这可能是KS精子发生的潜在靶标。
