Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations

[madman]

In summary, the in vivo mechanisms of high‐frequency phenotypic heterogeneity caused by AR gene mutations, as well as their impact on spermatogenesis, are still worthy of further study. Clinically, the effective evaluation of AR gene mutations has important implications: AR gene defects can be transmitted from the father to the offspring through the reproductive process and might cause more severe clinical phenotypes in their offspring. Therefore, infertile men should undergo appropriate genetic testing and counselling before attempting to reproduce, especially those who are looking for help by means of assisted reproductive technology (Dowsing et al., 1999). The detection of abnormal molecular variations in AR gene in normally virilised patients showing only spermatogenic dysfunction will provide new insights into the different receptor mechanisms of the AR gene, and alternatively mediated androgen actions and the associations with human disease.