DMRT1 and gonadal dysgenesis: Conversely, since chromosome 9 deletions involving DMRT1 have been identified in patients with gonadal dysgenesis (https://clinicalgenome.org) and small deletions and single nucleotide variants of the gene have been detected in patients with azoospermia [10], the partial deletion of DMRT1 is probably the determining factor in the development of azoospermia in the described family by a loss of function mechanism.