NR5A1 and disorder of sexual differentiation: Although the Nr5a1 KO mouse shows adrenal and gonadal dysgenesis [24], and the first reported child with a heterozygous NR5A1 variant had a similar phenotype of adrenogonadal dysplasia [28], follow-up reports showed that variants in NR5A1 are mostly associated with a very broad range of DSD and reproductive malfunction, and only extremely seldom associated with an adrenal phenotype [30, 129, 137].