Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.

Abstract excerpt

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...

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• Adrenal Hyperplasia, Congenital
• Disorder of Sex Development, 46,XY
• Gene Expression Profiling
• Mutation
• Phosphoproteins