NR5A1 and disorder of sexual differentiation: The somatic cells derived from a patient with 46,XY DSD carrying the NR5A1 variant p.Arg313Cys show aberrant expression of gonadal transcripts with either a reduction (NR5A1 and DMRT1) or an absence (GATA4 and FGF9) of expression of Sertoli markers, and at the same time, there is increased expression of the granulosa marker FOXL2 (Fig. 4B and fig.