Genetic underpinnings of asthenozoospermia

Asthenozoospermia (AZS), defined by reduced motility or absent sperm motility, is one of the main causes of male infertility. This condition may be divided into isolated AZS in the absence of other symptoms and syndromic AZS, which is characterized by several concurrent clinical symptoms. Sperm motility depends on fully functional flagellum, energy availability, and the crosstalk of several signaling pathways; therefore, mutations in genes involved in flagellar assembly and motile regulation can cause AZS. Thus, it is crucial to understand the genetic causes and mechanisms contributing to AZS. In this review, we summarize the current knowledge about the particular genes and mechanisms involved in intact flagellum, energy availability, and signaling transduction that could cause human AZS and discuss the respective gene defects known to be responsible for these abnormalities. Additionally, we discuss intracytoplasmic sperm injection outcomes and offspring health where available in these cases.