A Form of Lipoidosis of the Adrenal Cortex in an Infant

Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

“…Lipoid CAH was first described in detail as an inherited endocrine disorder by Prader and colleagues (Prader & Gurtner 1955, Prader & Siebenmann 1957, Prader & Anders 1962, although at least four autopsy cases appeared earlier in the pathology literature (Tilp 1913, Brutschy 1920, Zahn 1948, Sandison 1955). Prader's group described male pseudohermaphroditism, an apparent lack of adrenal steroids and accumulation of lipid deposits in the adrenal, inherited in an autosomal recessive fashion.…”

Early steps in steroidogenesis: intracellular cholesterol trafficking

“…Congenital lipoid adrenal hyperplasia (lipoid CAH) is a very severe disorder of steroidogenesis, characterized by minimal or absent serum concentrations of all steroids; high basal ACTH and plasma renin activity; absent steroidal responses to long-term treatment with high doses of ACTH or chorionic gonadotropin; and grossly enlarged adrenals fi lled with cholesterol and cholesterol esters (243)(244)(245)(246). Because these fi ndings indicate a lesion in the conversion of cholesterol to pregnenolone, lipoid CAH was initially thought to result from a disorder in an enzyme involved in this conversion; hence, before the role of P450scc was understood, lipoid CAH was mis-termed 20,22-desmolase defi ciency (246)(247)(248)(249)(250)(251).…”

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

“…Long-term treatment with high doses of ACTH or human chorionic gonadotropin in LCAH does not result in steroid biosynthesis. The adrenals are grossly enlarged due to storage of cholesterol and cholesterol esters within the cortex [2]. Absent glucocorticoids and mineralocorticoids lead to addisonian crises with salt loss in infancy.…”