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.