Objectives: To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5 alpha-reductase II (SRD5A2) gene. Materials and methods: The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n = 89), benign prostate hyperplasia (n = 45) and healthy military conscripts (n = 223). Results: The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p = 0.026 and p = 0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN < 23 had a higher risk of dying from the disease than their counterparts with longer repeats. Conclusions: Men with CaP were more often genetically predisposed to a higher enzymatic activity in the turn over from T to DHT compared to the general population. In our population, androgen receptor genotype affected CaP outcome. (c) 2005 Elsevier B.V. All rights reserved.