The clinical differentials of sex reversal with adrenal insufficiency include P450scc deficiency due to mutations in CYP11A1 gene, Smith-Lemli-Opitz syndrome (DHCR7 gene), NR5A1 (SF1) mutation-related sex reversal, CYP17 and 3-beta hydroxysteroid dehydrogenase deficiency (HSD3B2 gene) (3). The gene discussed is NR5A1; the disease is Smith-Lemli-Opitz syndrome.