DMRT1 mutations are rarely associated with male infertility

Because deletions of DMRT1 are found in XY gonadal dysgenesis, ovotesticular disorder, and male infertility, we sequenced DMRT1 in 171 male infertility patients and detected four possibly pathogenic mutations.

Ann-Christin Tewes, M.Sc., Susanne Ledig, Ph.D., Frank Tüttelmann, M.D., Sabine Kliesch, M.D., Peter Wieacker, M.D.

Volume 102, Issue 3, Pages 816-820


To study a potential association between male infertility and DMRT1 mutations.

Retrospective sequencing study.

University hospital.

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.

In total, we detected four putative pathogenic mutations in six patients (3.5%) and less frequently in two controls (0.9%).

Point mutations of DMRT1 may be rarely associated with male infertility.

  • Frank Tüttelmann

    Many thanks for your interest in our work and the comment on IHC for DMRT1 in testicular tissue. We are indeed investigating this further and are currently establishing staining.

  • ranjithrama

    The authors present an association between DMRT1 mutations and male infertility. They present data from sequencing the genome. It is well established that DMRT1 KO male mice are infertile with lack of germ cells . It would be nice to evaluate immunohistochemistry from testis biopsies in infertile men that had the mutation vs. those that did not have mutation.

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