MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.

doi:10.1530/EJE-18-0279

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Article

MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.

European journal of endocrinology - 1 Sept 2018

Miller Walter L

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. The term 'CAH' is generally used to mean 'steroid 21-hydroxylase deficiency' (21OHD) as 21OHD accou...

Topics

Adrenal Hyperplasia, Congenital
Brazil
China
Cholesterol Side-Chain Cleavage Enzyme
Humans
Hydrocortisone
Japan
Mutation
Phosphoproteins
Republic of Korea
Steroid 17-alpha-Hydroxylase
Steroids
Steroidogenic Acute Regulatory Protein

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