Abstract
Congenital lipoid adrenal hyperplasia (lipoid CAH) is an autosomal recessive disorder characterized by severe adrenal insufficiency and male sex reversal. Lipoid CAH is caused by mutations in two proteins that are essential for all steroid biosynthesis, the steroidogenic acute regulatory (StAR) protein and cytochrome P450scc. In this review, we discuss the clinical presentation and mechanisms behind the pathology of this fatal disorder.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Adrenal Cortex / chemistry
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Adrenal Cortex / embryology
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Adrenal Cortex / growth & development
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Adrenal Hyperplasia, Congenital / complications
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Adrenal Hyperplasia, Congenital / epidemiology
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Adrenal Hyperplasia, Congenital / genetics*
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Animals
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Brain / embryology
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Brain / growth & development
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Brain Chemistry
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Cholesterol Side-Chain Cleavage Enzyme / genetics*
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Female
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Humans
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Infant
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Infant, Newborn
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Male
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Mice
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Mice, Knockout
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Mutation*
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Organ Specificity
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Ovary / chemistry
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Ovary / embryology
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Ovary / growth & development
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Phosphoproteins / analysis
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Phosphoproteins / genetics*
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Phosphoproteins / physiology
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Steroidogenic Acute Regulatory Protein
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Steroids / biosynthesis
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Testis / chemistry
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Testis / embryology
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Testis / growth & development
Substances
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Phosphoproteins
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Steroids
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Steroidogenic Acute Regulatory Protein
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Cholesterol Side-Chain Cleavage Enzyme