ABSTRACT
INTRODUCTION The etiology of impaired sperm production and function can be related to different factors acting at pretesticular, post-testicular, or directly at the testicular level (1). Genetic factors can be identified in each etiologic category and some of them are currently part of the diagnostic workup of selected groups of patients (Table 1). Males with impaired sperm production due to genetic anomalies may now benefit from the wide diffusion of assisted reproductive techniques (ART) and may generate their own biological children. This implies that mutations or karyotype anomalies associated with male infertility can be transmitted to the offspring. On the other hand even males with normal karyotype but impaired sperm production are at high risk to be carriers of numerical or structural chromosomal anomalies in their spermatozoa that, depending on the type of anomaly, may lead to fertilization failure, spontaneous abortion, or to offspring with genetic or epigenetic defects. This chapter will focus on genetic factors involved in male infertility and on the consequences of their transmission to future generations.
