Different polymorphisms have been described in steroid hormone receptors which are related with variable human diseases. Polymorphisms of estrogen receptor alpha (ERalpha) and estrogen receptor beta (ERbeta) are related not only with reproductive diseases, but also with osteoporosis, cardiovascular disease, malignancy such as breast cancer, and disorders involving central nervous system. They are also related with individual reactivity to medications. Polymorphisms of androgen receptor are known to be associated with prostate cancer. Polymorphisms of glucocorticoid receptor are related with severity of inflammation and allergy. Analysis of steroid hormone receptor polymorphisms will make it possible to develop tailored medicine for human diseases.