Many genetic polymorphisms have been studied extensively to elucidate their role in the
pathophysiology of male infertility. This article presents a review of the literature following a …

The etiopathogenesis of testicular failure remains unknown in about half of the cases and is
referred to as “idiopathic infertility”.“Idiopathic” testicular failure is of probable genetic origin …

Male infertility represents one of the clearest examples of a complex disease with a
substantial genetic basis. Numerous male mouse models, mutation screening and …

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 …

A thorough understanding of the genetic basis of male infertility has eluded researchers in
spite of significant efforts to identify novel genetic causes of the disease, particularly over the …

STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

Male infertility is an extraordinarily common problem affecting 1 in 25 men. Despite active
research, the underlying causal factors remain unknown in a large percentage (40%) of …

Despite the identification of an increasing number of candidate genes involved in
spermatogenesis, the armamentarium of diagnostic genetic tests in male infertility remains …

Approximately 1 in 6 couples in the Western world is not able to conceive spontaneously
after 1 year of unprotected intercourse; in nearly half of these couples, the male partner has …

Male infertility is a complex condition with a strong genetic and epigenetic background. This
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …