Disorders in the initial steps of steroid hormone synthesis

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• 作者：Walter L. Miller ; ^{wlmlab@ucsf.edu}
• 关键词：ABC ; ATP-binding casette ; ACAT ; acyl-CoA ; cholesterol acyltransferase ; ALLO ; allopregnanolone ; CAH ; congenital adrenal hyperplasia ; CESD ; cholesterol ester storage disease ; CoA ; coenzyme A ; CYP ; cytochrome P450 ; DSD ; Disordered sexual development ; ER ; endoplasmic reticulum ; ERMES ; endoplasmic reticulum-mitochondria encounter structure ; FAD ; flavin adenine dinucleotide ; HDL ; High density lipoprotein ; HMG-CoA ; 3-hydroxy-3-methylglutaryl co-enzyme A ; HPBCD ; hydroxypropyl-β-cyclodextrin ; IMM ; inner m
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：18-37
• 全文大小：2110 K
• 卷排序：165

文摘

The complex biology of intracellular cholesterol trafficking and its delivery to steroidogenic mitochondria is incompletely understood. Paradoxically, the known human disorders of intracellular cholesterol trafficking have only modest effects on adrenal steroidogenesis. The Steroidogenic Acute Regulatory Protein (StAR) does not deliver cholesterol to mitochondria but instead promotes its transfer from the outer to inner mitochondrial membrane. Congenital lipoid adrenal hyperplasia (mutant StAR) typically presents with severe adrenal insufficiency and 46,XY sex reversal but may also be seen in milder non-classic, adult forms. Disorders of P450scc, the cholesterol side-chain cleavage enzyme are much rarer and resemble lipoid CAH clinically and hormonally, but do not exhibit its massive adrenal enlargement.