New developments in congenital lipoid adrenal hyperplasia and steroidogenic acute regulatory protein.
To date, studies of patients with lipoid CAH have shown the indispensable role of StAR in the production of steroids by adrenal gland and gonads. Lipoid CAH is the first and so far only inborn disorder of steroid hormone synthesis and metabolism that is not caused by a defective steroidogenic enzyme but rather by a defect in cholesterol transport.
Saenger
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Department of Pediatrics, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York, USA.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D011296:Prenatal Diagnosis; D000098682:Steroidogenic Acute Regulatory Protein
D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein; D002784:Cholesterol