Beyond the Basics: Genetic Insights into Male Infertility

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 10 September 2024 | Viewed by 1022

Special Issue Editor

Special Issue Information

Dear Colleagues,

Male infertility, which affects approximately 7% of men globally, is a complex pathological condition characterized by various semen abnormalities and qualitative defects.

Interestingly, the quest to understand male infertility has evolved dramatically from its early focus on physical and environmental factors to a sophisticated exploration of its genetic underpinnings. With the advent of genomic sequencing and molecular biology, the last few decades have witnessed a paradigm shift, revealing the intricate genetic landscapes that govern male reproductive function. This burgeoning field has identified a plethora of genetic variations, ranging from chromosomal anomalies to single nucleotide polymorphisms, that contribute to the complexity of male infertility. These discoveries not only challenge our traditional perceptions but also open new avenues for targeted interventions and personalized treatments.

The aim of this Special Issue is to delve into the latest genetic discoveries and their implications for diagnosing and treating male infertility. We seek to provide a comprehensive overview of current trends, challenges, and advancements in the field, fostering a deeper understanding of the genetic intricacies of male reproductive health.

We invite submissions of original research, review articles, and case studies that push the boundaries of our current knowledge. Contributions may cover a range of topics, including, but not limited to, novel genetic mutations associated with infertility, the role of epigenetics, innovative diagnostic techniques, and the potential for gene therapy in treatment. Our goal is to highlight cutting-edge research that offers new insights, challenges existing paradigms, and opens the door to novel therapeutic strategies.

Prof. Dr. Zissis Mamuris
Guest Editor

Maria-Anna Kyrgiafini
Guest Editor Assistant

Manuscript Submission Information

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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.


  • male infertility
  • semen
  • sperm
  • biomarkers
  • genetic variants

Published Papers (1 paper)

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21 pages, 1321 KiB  
Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence
by Andrea Graziani, Maria Santa Rocca, Cinzia Vinanzi, Giulia Masi, Giuseppe Grande, Luca De Toni and Alberto Ferlin
Genes 2024, 15(5), 600; - 8 May 2024
Viewed by 801
Several genes are implicated in spermatogenesis and fertility regulation, and these genes are presently being analysed in clinical practice due to their involvement in male factor infertility (MFI). However, there are still few genetic analyses that are currently recommended for use in clinical [...] Read more.
Several genes are implicated in spermatogenesis and fertility regulation, and these genes are presently being analysed in clinical practice due to their involvement in male factor infertility (MFI). However, there are still few genetic analyses that are currently recommended for use in clinical practice. In this manuscript, we reviewed the genetic causes of qualitative sperm defects. We distinguished between alterations causing reduced sperm motility (asthenozoospermia) and alterations causing changes in the typical morphology of sperm (teratozoospermia). In detail, the genetic causes of reduced sperm motility may be found in the alteration of genes associated with sperm mitochondrial DNA, mitochondrial proteins, ion transport and channels, and flagellar proteins. On the other hand, the genetic causes of changes in typical sperm morphology are related to conditions with a strong genetic basis, such as macrozoospermia, globozoospermia, and acephalic spermatozoa syndrome. We tried to distinguish alterations approved for routine clinical application from those still unsupported by adequate clinical studies. The most important aspect of the study was related to the correct identification of subjects to be tested and the correct application of genetic tests based on clear clinical data. The correct application of available genetic tests in a scenario where reduced sperm motility and changes in sperm morphology have been observed enables the delivery of a defined diagnosis and plays an important role in clinical decision-making. Finally, clarifying the genetic causes of MFI might, in future, contribute to reducing the proportion of so-called idiopathic MFI, which might indeed be defined as a subtype of MFI whose cause has not yet been revealed. Full article
(This article belongs to the Special Issue Beyond the Basics: Genetic Insights into Male Infertility)
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