Identification of an <i>AR</i> Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

Abstract

AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance.