Infertility is a major health issue with 14% of couples requiring medical assistance to conceive a child, and reduced sperm quantity or quality is a frequent cause of couple infertility. The diagnosis of male infertility is often merely descriptive, with the etiology of sperm defect being only rarely identified. One of the reasons for this lack of fundamental understanding is the heterogeneity of causal factors as male infertility is a typical multifactorial disorder with a strong genetic basis and additional factors such as urogenital infections, immunological or endocrine diseases, attack from reactive oxygen species (ROS), or perturbations from endocrine disruptors. Despite substantial efforts, little is known about the physiopathology of altered sperm production, its genetic causes, or the genetic and epigenetic consequences for the gamete and the forthcoming conceptus. Since assisted reproduction technology (ART) is widely used to achieve conception with gametes produced by compromised spermatogenesis, there is a clear need to detail the genetic aetiology of male infertility to improve long-term risk assessment on a case-by-case basis. The identification and study of the genes involved will throw much-needed light on the physiopathology of human male infertility and will improve patient management and provide a base for the development of therapeutic solutions tailored to the gene defect.

We invite investigators to contribute original research articles as well as review articles that will stimulate the continuing efforts to enlighten the various research and clinical developments in male infertility.