Related Experiment Video
Updated: Jan 24, 2026

Treatment Model for Young Patients with Psychogenic Erectile Dysfunction and Resultant Infertility
Published on: May 30, 2025
DMRT1 mutations are rarely associated with male infertility
Ann-Christin Tewes1, Susanne Ledig1, Frank Tüttelmann1
1Institute of Human Genetics, University of Münster, Münster, Germany.
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.
Related Concept Videos
Infertility in Males
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Infertility in Females
Endometriosis, a condition characterized by abnormal growth of...
Viral Mutations
Mutation, Gene Flow, and Genetic Drift

