Medical Knowledge Cockpit adrenal insufficiency

• Steroid hormone biosynthesis
  Homo sapiens (human) one gene

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CYP11A1

• Some new thoughts on the pathophysiology and genetics of polycystic ovary syndrome
• Identification by site-directed mutagenesis of two lysine residues in cholesterol side chain cleavage cytochrome P450 that are essential for adrenodoxin binding
• Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein
• Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25
• Site-specific mutations in human ferredoxin that affect binding to ferredoxin reductase and cytochrome P450scc

POMC

• Genetics of obesity in humans
• Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus