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.

KEYWORDS: {{ getKeywords(articleDetailText.words) }}