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Article

Phenotypic variations in lipoid congenital adrenal hyperplasia.

Pediatric endocrinology reviews : PER - 1 Mar 2006

Bhangoo Amrit, Anhalt Henry, Ten Svetlana, King Steven R

Abstract excerpt

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...

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PMID: 16639391

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