The Androgen Receptor Gene Polymorphism (ARGP) and Male Infertility

Abstract

Objectives: Examine the association between the androgen receptor gene trinucleotide polymorphism (ARGP) of exon 1 and severe hypospermatogenesis. Design: Men presenting with non-obstructive azoospermia or severe oligospermia, with normal peripheral blood karyotype and with absence of microdeletions of the AZF regions were examined for the ARGP CAG repeat number. Materials and Methods: ARGP repeat numbers were determined by polymerase chain reaction using published primers. The forward primer was labeled with HEX and the fragments analyzed using an ABI 310 capillary fluorescent fragment analyzer and Genescan software. Sequencing was performed using amplified fragments and the original primers and a Pharmacia cycle sequencing kit with dye terminator reagents, and analyzed using an ABI 377 fluorescence sequencer. The numbers of repeats in the gene were determined for control samples by sequencing and extrapolated for the remainder from fragment lengths of amplified product. Seminal fluid analyzes were performed using WHO 1999 criteria. Serum follicle stimulating hormone, lutenizing hormone and testosterone were determined. Results: All subjects (n=20) had ARGP numbers not significantly different from that found in the control groups of previously reported ARGP studies. The range of the ARGP was between 15–25 and the mean was 19.3. Conclusions: These results suggest that male infertility is at most infrequently associated with elongation of the ARGP.