AR and disorder of sexual differentiation: A study examining the clinical, hormonal, and genetic characteristics of 128 Turkish patients with 46,XY DSD diagnosed with AIS identified four novel mutations (c.94G>T, c.330G>C, c.2084C>T, and c.2585_2592delAGCTCCTG), as well as a silent mutation (c.330G>C) associated with AR gene alterations [22].