• PMID: 9433918
• Gene Name: AR
• Condition: Oligozoospermia, azoospermia
• Association: AR gene mutations are not likely to be a significant factor in the aetiology of male factor infertility in men with endocrine markers of androgen resistance.
• Population size: 6
• Population details: 6 infertile men
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Preliminary investigations on androgen receptor gene mutations in infertile men

Tincello DG, Saunders PT, Hargreave TB.

A total of 50 men were selected from all patients attending an infertility clinic on the basis of oligozoospermia or azoospermia with concentrations of luteinizing hormone >6 IU/l and testosterone >30 nmol/l. Six 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 presence of mutations by denaturing gradient gel electrophoresis. The glutamine rich portion of exon 1 was sequenced directly. All of the coding sequence of the gene was examined except the glycine rich portion of exon 1 in all patients. No mutations or deletions were identified. Androgen 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 the pathogenesis of oligozoospermia/azoospermia and infertility. FAU - Tincello, D G AU - Tincello DG AD - University Department of Surgery, Western General Hospital, Edinburgh, UK. FAU - Saunders, P T AU - Saunders PT