Human DMRT1 deletions and microdeletions on the distal part of chromosome 9, where DMRT1 is located, and missense mutations in the DM domain have been associated with Disorders in Sexual Development (DSD), and reported to cause partial or complete 46,XY gonadal dysgenesis (Raymond, 1999; Zarkower and Murphy, 2021) and male infertility cases (Tewes et al., 2014). The gene discussed is DMRT1; the disease is male infertility.