Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.
Xiaotong WangXinyu LiuMengyuan QuHong-Gang LiPublished in: Cellular and molecular life sciences : CMLS (2023)
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.
Keyphrases
- genome wide
- single cell
- mental health
- end stage renal disease
- stem cells
- copy number
- ejection fraction
- newly diagnosed
- chronic kidney disease
- induced apoptosis
- gene therapy
- prognostic factors
- systematic review
- cell cycle arrest
- early onset
- gene expression
- case report
- young adults
- endothelial cells
- rna seq
- oxidative stress
- signaling pathway
- mouse model
- type diabetes
- late onset
- mass spectrometry
- bone marrow
- polycystic ovary syndrome
- cell proliferation
- endoplasmic reticulum stress