SF1 and disorder of sexual differentiation: The importance of SF-1 in regulating human adrenal and gonad development and function was confirmed following the report of an infant with a similar phenotype (primary salt-losing adrenal failure, 46,XY DSD, Müllerian structures) who had inherited a homozygous p.R92Q alteration in SF-1 in a recessive fashion (Fig. 1A) (Achermann et al., 2002).