In the last family of 3 siblings with similar 46, XY DSD phenotypes (DSD cases 52, 53and 82), a heterozygous splice site variant of uncertain significance (c.3347-1G > A) in SOS1 gene (Noonan syndrome 4; MIM 610733) was identified in the sister (DSD 82). Here, SOS1 is linked to disorder of sexual differentiation.