The Shraga Segal Department of Microbiology, Immunology, and Genetics, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
The Center of Advanced Research and Education in Reproduction (CARER), Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Andrologia. 2022 Nov;54(10):e14558. doi: 10.1111/and.14558. Epub 2022 Aug 19.
Klinefelter syndrome (KS) is the most prevalent genetic disorder of infertile males. This study aimed to determine in Klinefelter patients (KS) the expression levels of spermatogenic markers and testicular growth factors that might predict spermatogenesis based on conventional testicular sperm extraction (TESE). The expression levels of the pre-meiotic (OCT4, CD9, GFR-α1, α-6-INTEGRIN, SALL4, C-KIT), meiotic (CREM-1), and post-meiotic (protamine) markers, as well as the colony stimulating factor-1 (CSF-1) were examined in testicular biopsies with and without mature sperm of KS and normal karyotype of azoospermic patients (AZO) with complete spermatogenesis. In the biopsies of AZO, the expression levels (fold of expression compared to the PPI of the same sample) of OCT4 were 9.68± 7.93, CREM 42.78± 28.22, CSF-1 3.07 ± 3.19, and protamine 78498.12 ± 73214.40. Biopsies from KS included 7 with sperm and 17 without sperm. Among the biopsies with sperm, the expression levels of OCT4 were 7.27± 9.29, CREM 3.13± 7.89, CSF-1 35.5 ± 48.01, and protamine 902.97 ± 2365.92. In 14 biopsies without sperm, we found low expression levels of OCT4, CREM and CSF-1, and no expression of protamine. However, in three of the biopsies without sperm that highly expressed OCT4 and CSF-1, the expression levels of CREM-1 and protamine were high. These results may be used for further consulting with patients considering repeating conventional TESE or micro TESE and cryopreservation for possible future in-vitro spermatogenesis.
克氏综合征（KS）是最常见的男性不育遗传疾病。本研究旨在通过常规睾丸精子提取（TESE），确定 KS 患者的生精标记物和睾丸生长因子的表达水平，这些表达水平可能与生精有关。在具有成熟精子和无成熟精子的 KS 睾丸活检以及具有完整生精功能的正常核型非梗阻性无精子症（AZO）患者的睾丸活检中，检测了减数分裂前（OCT4、CD9、GFR-α1、α-6-INTEGRIN、SALL4、C-KIT）、减数分裂（CREM-1）和减数分裂后（鱼精蛋白）标记物以及集落刺激因子-1（CSF-1）的表达水平。在 AZO 的活检中，OCT4 的表达水平（与同一样本 PPI 的表达倍数）为 9.68±7.93，CREM 为 42.78±28.22，CSF-1 为 3.07±3.19，鱼精蛋白为 78498.12±73214.40。KS 的活检包括 7 例有精子和 17 例无精子。在有精子的活检中，OCT4 的表达水平为 7.27±9.29，CREM 为 3.13±7.89，CSF-1 为 35.5±48.01，鱼精蛋白为 902.97±2365.92。在 14 例无精子的活检中，我们发现 OCT4、CREM 和 CSF-1 的表达水平较低，且没有鱼精蛋白的表达。然而，在 3 例 OCT4 和 CSF-1 高表达但无精子的活检中，CREM-1 和鱼精蛋白的表达水平较高。这些结果可用于进一步咨询患者，考虑重复常规 TESE 或微 TESE 并冷冻保存，以备将来可能进行体外生精。
