[Pathophysiology of disease caused by mutation in estrogen receptors]

Study of the mutation in estrogen receptor alpha gene in a man has been reported. This observation provides the new insights in the critical role of estrogen in the male for skeletal maturation and maintenance of bone mass. This new concept is supported by the findings on the patients with aromatase deficiency. In addition, I would like to stress the district differences in the clinical profiles between estrogen receptor alpha-deficient male and estrogen receptor alpha-knockout mouse.