Genetics of male factor infertility: where have we been and where are we going?

Abstract

This month’s Views and Reviews provides a detailed review of the genetics of male factor infertility including tests that are currently used and their origins as well as newer tests that can improve care for our patients. Krausz et al. examined the structure and function of the Y chromosome from the first links to spermatogenesis to implications today for reproduction and health. Lamb reviewed the male karyotype and the myriad of numerical or structure anomalies reported and best practices for patient management. Hwang et al. reviewed data on several genetic syndromes with a male reproductive phenotype and examined diagnostic and management challenges and options. Finally, Held et al. examined the emerging genetics of male genital development and the implications for male fertility. All providers caring for a couple with infertility will benefit from a deeper understanding of the genetic testing of the male partner.