title: Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.
abstract: The steroidogenic acute regulatory (StAR) protein is essential for all hormone-stimulated steroid biosynthesis. Accordingly, its absence gives rise to the most severe form of congenital adrenal hyperplasia (CAH), lipoid CAH. This life-threatening condition typically manifests itself in the perinatal period. Partial loss-of-function StAR mutations incompletely manifest the condition later in life and are a cause of familial glucocorticoid deficiency type 3. Here, we discuss StAR, its expression pattern and the clinical consequences of the loss of its activity.
authors.forename: Steven R
authors.initials: SR
authors.lastname: King
authors.forename: Amrit
authors.initials: A
authors.lastname: Bhangoo
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Stocco
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000503:physiopathology; D000818:Animals; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics / Q000503:physiopathology; D020869:Gene Expression Profiling; D006801:Humans; D009154:Mutation / Q000502:physiology; D010750:Phosphoproteins / Q000235:genetics* / Q000502:physiology*; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein