[Congenital lipoid adrenal hyperplasia].

Congenital lipoid adrenal hyperplasia(CLAH) is known as the severest form of congenital adrenal hyperplasia, which is characterized by the lack of biosynthesis of all steroid hormones and its metabolites due to the failure in converting cholesterol to pregnenolone, the first and rate-limiting step of steroid synthesis. The genetic etiology has been identified; trafficking defect of cholesterol to mitochondria due to defect of StAR gene, and conversion defect of cholesterol to pregnenolone at mitochondrial membrane due to the defect of CYP11A, cholesterol side chain cleavage enzyme. The advancement of genetical analysis has revealed that the clinical feature is not only defined as severe salt-loosing and complete failure of musculinization, but also as relatively mild or late-onset form. Spontaneous puberty may exhibit to 46,XX patients while 46,XY subjects will never show pubertal signs. It suggested that 1) it may take more time to deposit lipid particles to cause irreversible damage to ovary than to testis, 2) there exists the other ways in cholesterol trafficking which rescue the StAR deficiency.