Remarkably, several AR mutations associated with oligospermia and androgen insensitivity syndrome map to Pro-390, the conserved proline downstream of the first SC motif in AR.
We found that azoospermic patients had higher mutation rates on exons 1 and 4 of the androgen receptor gene, when compared to other alterations that also lead to infertility, such as oligozoospermia and teratozoospermia.
Infertile males with testicular failure, particularly those with hypospermatogenesis, are more likely to have a longer androgen receptor polyglutamine tract than controls.
During recent years several studies have suggested that a slight increase in the number of CAG repeat sequences in exon 1 of the androgen receptor gene causes idiopathic oligozoospermia.