Genetics of Male 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 infertility including tests that are currently utilized and their origins as well as newer tests that can improve care for our patients. Krausz et al examines the structure and function of the Y chromosome from the first links to spermatogenesis to implications today for reproduction and health. Dr. Lamb reviews the male karyotype and the myriad of numerical or structure anomalies reported and best practices for patient management. Hwang et al reviews data on several genetic syndromes with a male reproductive phenotype and examines diagnostic and management challenges and options. Finally, Held et al examines the emerging genetics of male genital development and the implications for male fertility. All providers caring for an infertile couple will benefit from a deeper understanding of the genetic testing of the male partner.

View details for DOI 10.1016/j.fertnstert.2025.03.016

View details for PubMedID 40127711