Phenotypic variations in lipoid congenital adrenal hyperplasia

Pediatr Endocrinol Rev. 2006 Mar;3(3):258-71.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adrenal Cortex / chemistry
  • Adrenal Cortex / embryology
  • Adrenal Cortex / growth & development
  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / epidemiology
  • Adrenal Hyperplasia, Congenital / genetics*
  • Animals
  • Brain / embryology
  • Brain / growth & development
  • Brain Chemistry
  • Cholesterol Side-Chain Cleavage Enzyme / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mice
  • Mice, Knockout
  • Mutation*
  • Organ Specificity
  • Ovary / chemistry
  • Ovary / embryology
  • Ovary / growth & development
  • Phosphoproteins / analysis
  • Phosphoproteins / genetics*
  • Phosphoproteins / physiology
  • Steroids / biosynthesis
  • Testis / chemistry
  • Testis / embryology
  • Testis / growth & development

Substances

  • Phosphoproteins
  • Steroids
  • steroidogenic acute regulatory protein
  • Cholesterol Side-Chain Cleavage Enzyme