Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine
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Androgen insensitivity syndrome (AIS) is a rare disease associated with inactivating mutations of AR that disrupt male sexual differentiation and cause a spectrum of phenotypic abnormalities having as a common denominator loss of reproductive viability. No established treatment exists for this condition; however, there are sporadic reports of patients (or recapitulated mutations in cell lines) that respond to administration of supraphysiologic doses (or pulses) of testosterone or synthetic ligands. The common denominator of these mutations is that they are located in the ligand-binding domain (LBD) and are associated with qualitative abnormal 3H-DHT binding consisting of increased ligand–receptor dissociation rate.