MAIN GENES REGULATING SPERMATOGENESIS ASSOCIATED WITH MALE INFERTILITY
DOI:
https://doi.org/10.56238/levv17n60-076Keywords:
Genes, Male Infertility, Mutation, NR5A1, SYCP3, ARAbstract
Introduction: Spermatogenesis is regulated by the coordinated action of specific genes in its different stages, with SYCP3, NR5A1, and the androgen receptor (AR) being central regulators with distinct and complementary functions in sperm production. Objective: To analyze how these genes act in spermatogenesis and how their alterations contribute to male infertility. Methodology: This was an integrative literature review, in which 13 articles published between 2021 and 2025 were selected from the PubMed, PubMed Central, and Virtual Health Library databases, based on previously defined inclusion and exclusion criteria. Results: 13 articles were included in the review corpus. The findings showed that SYCP3, as a structural component of the synaptonemal complex, is essential for chromosome pairing during prophase I, and its pathogenic variants are associated with meiotic arrest and azoospermia, with potential as a diagnostic biomarker. Complementarily, NR5A1 acts hierarchically in the regulation of Sertoli and Leydig cell differentiation, in addition to controlling gene cascades that include AR itself, which explains the phenotypic variability associated with its mutations. AR, in turn, mediates androgen signaling in Sertoli cells, being indispensable for paracrine support of germ cells. It was also observed that these genes comprise an integrated regulatory network, whose dysfunctions can be amplified by epigenetic mechanisms. Final considerations: An integrated understanding of these regulators is fundamental for advancing the diagnosis and clinical management of male infertility of genetic origin.
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References
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