Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH,as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH arecaused by recessive mutations in the gene encoding steroidogenic acute regulatoryprotein (StAR). Affected patients typically present with signs of severe adrenalfailure in early infancy and 46,XY genetic males are phenotypic females due todisrupted testicular androgen secretion. The StAR p.Q258X mutation accounts forabout 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, somepatients have been showed that they had late and mild clinical findings. Thesecases and studies constitute a new entity of ''nonclassic lipoid CAH''. The cholesterolside-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role convertingcholesterol to pregnenolone. Although progesterone production from the fetallyderived placenta is necessary to maintain a pregnancy to term, some patients withP450scc mutations have recently been reported. P450scc mutations can also causelipoid CAH and establish a recently recognized human endocrine disorder