| Literature DB >> 16639391 |
Amrit Bhangoo1, Henry Anhalt, Svetlana Ten, Steven R King.
Abstract
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 of this fatal disorder.Entities:
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Year: 2006 PMID： 16639391
Source DB: PubMed Journal: Pediatr Endocrinol Rev ISSN： 1565-4753