Recent advances and future opportunities to diagnose male infertility

Infertility affects 10-15% of couples, making it one of the most frequent health disorders for individuals of reproductive age. The state of childlessness and efforts to restore fertility cause substantial emotional, social, and financial stress on couples. Male factors contribute to about half of all infertility cases, and yet are understudied relative to female factors. The result is that the majority of men with infertility lack specific causal diagnoses, which serves as a missed opportunity to inform therapies for these couples.

In this review, we describe current standards for diagnosing male infertility and the various interventions offered to men in response to differential diagnoses. We then discuss recent advances in the field of genetics to identify novel etiologies for formerly unexplained infertility.

With a specific genetic diagnosis, male factors can be addressed with appropriate reproductive counseling and with potential access to assisted reproductive technologies to improve chances of a healthy pregnancy.