2001; Hauffa and Hiort 2011; Parajes et al. 2011, 2012; Tee et al. 2013). Compared with CAH, AI patients can present mild to severe adrenal insufficiency symptoms without adrenal hyperplasia, these symptoms can manifest at any time from infancy to early childhood, depending on the degree of P450scc dysfunction (Hauffa and Hiort 2011; Tee et al. 2013). The gene discussed is CYP11A1; the disease is Adrenal insufficiency.