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[Androgen insensitivity syndrome and co-activator disease]
Kimitaka Tanaka1, Masatoshi Nomura, Hajime Nawata
1Department of Medicine, Graduate School of Medical Sciences, Kyusyu University.
Nihon Rinsho. Japanese Journal of Clinical Medicine
|February 19, 2004
Abstract:
Androgen insensitivity syndrome(AIS) is a clinical continuum of virilization disorders in XY males. Almost AIS is due to mutations in androgen receptor(AR) gene. Over 300 mutations in the AR gene have been reported. In addition, we have reported the case of complete AIS who has no mutations in AR gene, caused by co-activator abnormality. The recent advances in live-cell imaging techniques have developed a novel concept in AIS.