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Review
. 2023 Feb 23;80(3):67.
doi: 10.1007/s00018-023-04723-w.

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms

Xiaotong Wang #  1   2 , Xinyu Liu #  1 , Mengyuan Qu  1 , Honggang Li  3   4
Affiliations
Review

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms

Xiaotong Wang et al. Cell Mol Life Sci. .

Abstract

Male infertility can be caused by quantitative and/or qualitative abnormalities in spermatogenesis, which affects men's physical and mental health. Sertoli cell-only syndrome (SCOS) is the most severe histological phenotype of male infertility characterized by the depletion of germ cells with only Sertoli cells remaining in the seminiferous tubules. Most SCOS cases cannot be explained by the already known genetic causes including karyotype abnormalities and microdeletions of the Y chromosome. With the development of sequencing technology, studies on screening new genetic causes for SCOS are growing in recent years. Directly sequencing of target genes in sporadic cases and whole-exome sequencing applied in familial cases have identified several genes associated with SCOS. Analyses of the testicular transcriptome, proteome, and epigenetics in SCOS patients provide explanations regarding the molecular mechanisms of SCOS. In this review, we discuss the possible relationship between defective germline development and SCOS based on mouse models with SCO phenotype. We also summarize the advances and challenges in the exploration of genetic causes and mechanisms of SCOS. Knowing the genetic factors of SCOS offers a better understanding of SCO and human spermatogenesis, and it also has practical significance for improving diagnosis, making appropriate medical decisions, and genetic counseling. For therapeutic implications, SCOS research, along with the achievements in stem cell technologies and gene therapy, build the foundation to develop novel therapies for SCOS patients to produce functional spermatozoa, giving them hope to father children.

Keywords: Azoospermia; Induced pluripotent stem cell; Male sterility; Nonobstructive azoospermia; Stem cell niche; Stem cell transplantation.

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Conflict of interest statement

The authors report no financial or other conflict of interest relevant to the subject of this article.

Figures

Fig. 1
Fig. 1
The early germline development in mice and its implication on SCOS
Fig. 2
Fig. 2
The scheme of clinical diagnosis of SCOS
Fig. 3
Fig. 3
Potential treatments for SCOS
See this image and copyright information in PMC

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