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Article

A Genetic Isolate of Congenital Lipoid Adrenal Hyperplasia with Atypical Clinical Findings

1 Feb 2005

Abstract excerpt

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH, eventually destroying all adrenal and gonadal steroidogenesis. Lipoid CAH is caused by mutations in the steroidogenic acute regulatory protein (StAR), which facilitates the entry of cholesterol into mitochondria to initiate steroidogenesis. Patients with lipoid CAH typically present with a salt-losing crisis in the first 2 months...

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PMID: 15546900
DOI: 10.1210/jc.2004-1323

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A Genetic Isolate of Congenital Lipoid Adrenal Hyperplasia with Atypical Clinical FindingsPMID 15546900Read ↗

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