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. 2006 Mar;3(3):258-71.

Phenotypic variations in lipoid congenital adrenal hyperplasia

Amrit Bhangoo  1 , Henry Anhalt, Svetlana Ten, Steven R King
Affiliations
  • PMID: 16639391

Phenotypic variations in lipoid congenital adrenal hyperplasia

Amrit Bhangoo et al. Pediatr Endocrinol Rev. 2006 Mar.

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.

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