PRELIMINARY INVESTIGATIONS ON ANDROGEN RECEPTOR GENE-MUTATIONS IN INFERTILE MEN

A total of 50 men were selected from all patients attending an inferti lity clinic on the basis of oligozoospermia or azoospermia with concen trations of luteinizing hormone >6 IU/l and testosterone >30 nmol/l. S ix of these men responded to written invitation and DNA was extracted from blood leukocytes. Individual exons of the androgen receptor gene were amplified by polymerase chain reaction and screened for the prese nce of mutations by denaturing gradient gel electrophoresis. The gluta mine rich portion of exon 1 was sequenced directly. All of the coding sequence of the gene was examined except the glycine rich portion of e xon 1 in all patients. No mutations or deletions were identified. Andr ogen receptor gene mutations do not appear to be present in infertile men with biochemical disturbances compatible with androgen resistance. It is therefore unlikely that such mutations are a major factor in th e pathogenesis of oligozoospermia/azoospermia and infertility.