Phenotypic variations in lipoid congenital adrenal hyperplasia.
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.
Bhangoo
Amrit
A
Pediatric Endocrinology Division of Infants and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY, USA.
Anhalt
Henry
H
Ten
Svetlana
S
King
Steven R
SR
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
D010750:Phosphoproteins; D013256:Steroids; D000098682:Steroidogenic Acute Regulatory Protein; D002786:Cholesterol Side-Chain Cleavage Enzyme