- Defect in androgen action    Partial androgen insensitivity (AR)     Infantile onset X-linked spinal muscular atrophy  - LH receptor defects    Inactivating mutation of LH receptor gene (LHCGR) (Leydig cell hypoplasia, aplasia)  1.3 46,XX DSD* - Ovotesticular DSD  - Testicular DSD (e.g. SRY+, dup SOX9, RSP01)    46,XX male. Here, SOX9 is linked to disorder of sexual differentiation.