title: Phenotypic variations in lipoid congenital adrenal hyperplasia.
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.
authors.affiliation: Pediatric Endocrinology Division of Infants and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY, USA.
authors.forename: Amrit
authors.initials: A
authors.lastname: Bhangoo
authors.forename: Henry
authors.initials: H
authors.lastname: Anhalt
authors.forename: Svetlana
authors.initials: S
authors.lastname: Ten
authors.forename: Steven R
authors.initials: SR
authors.lastname: King
mesh_terms: D000302:Adrenal Cortex / Q000737:chemistry / Q000196:embryology / Q000254:growth & development; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D000818:Animals; D001921:Brain / Q000196:embryology / Q000254:growth & development; D001923:Brain Chemistry; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D009928:Organ Specificity; D010053:Ovary / Q000737:chemistry / Q000196:embryology / Q000254:growth & development; D010750:Phosphoproteins / Q000032:analysis / Q000235:genetics* / Q000502:physiology; D013256:Steroids / Q000096:biosynthesis; D013737:Testis / Q000737:chemistry / Q000196:embryology / Q000254:growth & development; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D013256:Steroids; D000098682:Steroidogenic Acute Regulatory Protein; D002786:Cholesterol Side-Chain Cleavage Enzyme