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: 5 June 2026 | Viewed by 3353
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- genetics
- male infertility
- azoospermia
- next generation sequencing
- genetic variants
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
