lipoid congenital adrenal hyperplasia
lipoid congenital adrenal hyperplasia
The most severe form of adrenal hyperplasia (OMIM:201710), which is characterised by profound adrenocortical insufficiency of neonatal onset, hyperpigmentation due to increased production of pro-opiomelanocortin, elevated plasma renin secretion due to reduced aldosterone synthesis, and male pseudohermaphroditism due to deficient foetal testicular testosterone synthesis. Affected infants are phenotypically female regardless of gonadal sex, and die in infancy if mineralocorticoid and glucocorticoid replacement is not begun immediately.Molecular pathology
Defects of STAR, which encodes a protein that plays a key role in steroid hormone synthesis, cause lipoid congenital adrenal hyperplasia.