Purpose of review: The purpose of this review is to highlight the most important advances in the field of genetics of male infertility, with particular attention to primary articles dealing with the identification of new genetic and epigenetic markers that could be translated into clinical practice in the near future.
Recent findings: Copy number variations (CNVs) of the Y chromosome (gr/gr) deletions could already be included in the diagnostic workup of infertile men, although confirming studies are needed for CNVs on the X chromosome, as well for polymorphisms in some autosomal genes and telomere length in sperm. Methods need to be further standardized before sperm DNA analysis could be included in clinical practice, although they can help in defining some forms of idiopathic infertility. Epigenetic biomarkers are potentially important in elucidating the cause of idiopathic male infertility. Polymorphisms in FSHB/FSHR could be used in clinical practice to diagnose some forms of male infertility and as a pharmacogenetic marker for FSH treatment.
Summary: New genetic causes and genetic risk factors have been identified in recent years and new technologies for genomic and postgenomic analyses (arrays, next-generation sequencing, proteomics, metabolomics, global methylome analysis and so on) are promising research fields. It is presumed that some of these genetic and epigenetic tests will be introduced in clinical practice in the near future.