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Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

31 Jan 2018

Abstract excerpt

PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the...

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PMID: 29718004
DOI: 10.1097/med.0000000000000402

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