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Congenital lipoid adrenal hyperplasia

1 Jan 2014

Abstract excerpt

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted...

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PMID: 25654062
DOI: 10.6065/apem.2014.19.4.179

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