Congenital lipoid adrenal hyperplasia (CLAH) is a rare form of congenital adrenal hyperplasia.
Synonym: lipoid CAH
Chromosome: 8p11.23
Gene: STAR (steroidogenic acute regulatory protein)
Function: STAR enhances conversion of cholesterol into pregnenolone and it mediates the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane.
Clinical phenotypes:
(1) classic: total deficiency in STAR activity
(2) nonclassic: partial deficiency in STAR activity
Classic CLAH is often lethal. It is associated with deficiency of adrenal and gonadal steroid hormones (both androgen and mineralocorticoid deficiency).
(1) The onset is during neonatal period or early infancy.
(2) Inheritance is autosomal recessive.
(3) XY males are phenotypic females.
(4) Salt-losing episodes occur.
Criteria for nonclassic CLAH - later onset and milder clinical findings with:
(1) Quigley grade 1
(2) no salt-losing episodes
(3) onset or primary adrenal insufficiency at 1 year or older
