Provocative aspects of androgen genetics

Androgens play a key role in prostate structure and function, leading to the hypothesis that effects of the hormone are an important component in the development of prostatic disease. Differences in serum testosterone levels and 5α-reductase activities between ethnic and racial groups have been implicated in the variable incidence of prostate cancer among certain populations. Androgen receptors transduce the steroid signal within cells, but attempts to correlate differences in receptor levels with prostatic disease have been unsuccessful. However, molecular studies of androgen receptor gene structure have recently provided new insights toward defining a genetic basis for the pathology associated with three diseases-spinal bulbar muscular atrophy, breast carcinoma, and prostate cancer-affecting middle- aged and older men. In summary, epidemiologic data on androgen biosynthesis, metabolism, and action of androgens and molecular genetic analysis of gene structure have led to a new understanding of the interrelationships between environmental and genetic factors that may impact on the incidence of certain pathologic conditions in men.