The Genetics of Male Infertility and Clinical Implications
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 July 2025 | Viewed by 116
Special Issue Editor
Special Issue Information
Dear Colleagues,
Male infertility is a daily challenge for the clinical andrologist. Even after a thorough diagnostic work-up, about one-third of male infertility cases do not find an identifiable cause and remain defined as “idiopathic.”
However, the introduction of genetic investigation techniques, from classical PCR to next-generation sequencing platforms, has made it possible to identify many genetic determinants of infertility and shed light on previously unknown pathophysiological aspects. The finding of chromosomal abnormalities (e.g., sex chromosome aneuploidies, balanced and unbalanced translocations), Y-chromosome microdeletions, and genetic polymorphisms (e.g., the androgen receptor and FSH receptor) has become a common occurrence in practice. Consequently, knowledge of managing the clinical implications of these findings is mandatory.
An increasing interest in the genetics of male infertility has encouraged the formulation of this Special Issue. I therefore invite authors to submit original research articles, reviews, meta-analyses, concept papers, and commentaries that explore the pathophysiological aspects of infertility and apply such research data in clinical practice.
Dr. Gianmaria Salvio
Guest Editor
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Keywords
- genetics
- male infertility
- azoospermia
- next generation sequencing
- genetic variants
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