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唯支持细胞综合征:病因与临床处理。

Sertoli cell-only syndrome: etiology and clinical management.

机构信息

Department of Anatomy, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

J Assist Reprod Genet. 2021 Mar;38(3):559-572. doi: 10.1007/s10815-021-02063-x. Epub 2021 Jan 11.

DOI:10.1007/s10815-021-02063-x
PMID:33428073
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7910341/
Abstract

Almost 50% of infertility cases are due to male factors, and spermatogenesis failure is one of the most severe forms of male infertility. Sertoli cell-only syndrome (SCOS) also known as germ cell aplasia is characterized by azoospermia in which the seminiferous tubules of testicular biopsy are lined only with Sertoli cells. The definitive diagnosis of SCOS is by diagnostic testicular biopsy. Although SCOS may be a result of Klinefelter syndrome, most of the SCOS men have a normal karyotype. Along with genetic aberrations, signaling pathways and endocrine processes might be major factors in the development of SCOS. Sperm retrieval and intracytoplasmic sperm injection (ICSI) are available treatments for SCOS. However, some SCOS patients do not have therapeutic options to help them having a biological child. This review aims to summarize our present knowledge about SCOS and to highlight the importance of future researches in the diagnosis and treatment of this disorder.

摘要

大约 50%的不孕病例是由男性因素引起的,而精子发生衰竭是男性不育症最严重的形式之一。唯支持细胞综合征(Sertoli 细胞-only 综合征,SCOS)也称为生殖细胞发育不全,其特征是无精子症,睾丸活检的生精小管仅由支持细胞排列。SCOS 的明确诊断是通过诊断性睾丸活检。虽然 SCOS 可能是克氏综合征的结果,但大多数 SCOS 男性的核型正常。除了遗传异常外,信号通路和内分泌过程可能是 SCOS 发展的主要因素。精子提取和胞质内单精子注射(ICSI)是 SCOS 的可用治疗方法。然而,一些 SCOS 患者没有治疗选择来帮助他们拥有亲生子女。本综述旨在总结我们目前对 SCOS 的认识,并强调未来在该疾病的诊断和治疗方面进行研究的重要性。

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本文引用的文献

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Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.从携带PIWIL2基因c.731_732delAT的唯支持细胞综合征患者的成纤维细胞中生成诱导多能干细胞系(HUSTi002-A)。
Stem Cell Res. 2020 Jan;42:101703. doi: 10.1016/j.scr.2020.101703. Epub 2020 Jan 22.
2
Induction of Sertoli-like cells from human fibroblasts by NR5A1 and GATA4.人成纤维细胞中 NR5A1 和 GATA4 诱导的支持细胞样细胞。
Elife. 2019 Nov 11;8:e48767. doi: 10.7554/eLife.48767.
3
Duplications in 19p13.3 are associated with male infertility.19p13.3 重复与男性不育有关。
J Assist Reprod Genet. 2019 Oct;36(10):2171-2179. doi: 10.1007/s10815-019-01547-1. Epub 2019 Aug 16.
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Aberrant gene expression by Sertoli cells in infertile men with Sertoli cell-only syndrome.不育症患者唯支持细胞综合征中支持细胞的基因表达异常。
PLoS One. 2019 May 9;14(5):e0216586. doi: 10.1371/journal.pone.0216586. eCollection 2019.
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Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome.紊乱的 APC/C 介导的细胞周期进程和 IGF1/PI3K/AKT 信号转导是唯支持细胞综合征的潜在基础。
Andrologia. 2019 Aug;51(7):e13288. doi: 10.1111/and.13288. Epub 2019 Apr 17.
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7
The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls.通过比较患者与正常对照,聚腺苷酸聚合酶β基因可能与日本患者中由唯支持细胞综合征引起的无精子症无关。
J Obstet Gynaecol. 2019 Apr;39(3):434-436. doi: 10.1080/01443615.2018.1504205. Epub 2019 Feb 11.
8
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Fibroblast growth factor-5 promotes spermatogonial stem cell proliferation via ERK and AKT activation.成纤维细胞生长因子 5 通过 ERK 和 AKT 的激活促进精原干细胞增殖。
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miR-202-3p Regulates Sertoli Cell Proliferation, Synthesis Function, and Apoptosis by Targeting LRP6 and Cyclin D1 of Wnt/β-Catenin Signaling.miR-202-3p通过靶向Wnt/β-连环蛋白信号通路的LRP6和细胞周期蛋白D1来调节支持细胞的增殖、合成功能和凋亡。
Mol Ther Nucleic Acids. 2019 Mar 1;14:1-19. doi: 10.1016/j.omtn.2018.10.012. Epub 2018 Oct 25.