DMRT1 mutations are rarely associated with male infertility

Objective: To study a potential association between male infertility and DMRT1 mutations. Design: Retrospective sequencing study. Setting: University hospital. Patient(s): 171 patients with cryptozoospermia (sperm concentration <0.1 million/mL, n = 40) or nonobstructive azoospermia (n = 131), and 215 normozoospermic controls. Intervention(s): Sequence analysis of DMRT1. Main Outcome Measure(s): Identification of rare variants in DMRT1 that are associated with male infertility. Result(s): In total, we detected four putative pathogenic mutations in six patients (3.5%) and less frequently in two controls (0.9%). Conclusion(s): Point mutations of DMRT1 may be rarely associated with male infertility. (C)2014 by American Society for Reproductive Medicine.