NR5A1 and primary adrenal insufficiency: To address this, mutational analysis of NR5A1 was undertaken in a cohort or phenotypic males (46,XY) and females (46,XX) with primary adrenal failure of unknown etiology, as well as a small group of 46,XY individuals with primary adrenal insufficiency and varying degrees of testicular dysfunction (Lin et al., 2006).