Article
Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
Trends in endocrinology and metabolism: TEM - 1 Apr 2008
Nimkarn Saroj, New Maria I
Abstract excerpt
Congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11beta-hydroxylase deficiency in the zona fasciculata in the adrenal cortex, have been...
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