Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, Part 1.

doi:10.1177/000992280104000101

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Article

Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, Part 1.

Clinical pediatrics - 1 Jan 2001

Collett-Solberg P F

Abstract excerpt

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders with defects in the synthesis of cortisol. The synthesis of other steroids such as mineralocorticoids and adrenal/gonadal sex steroids may also be affected. The clinical presentation of the various forms of CAH depend on the following: (1) the affected enzyme, (2) the residual enzymatic activity, (3) the physiologic consequences of...

Topics

3-Hydroxysteroid Dehydrogenases
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Cholesterol Side-Chain Cleavage Enzyme
Female
Humans
Infant, Newborn
Mutation
Steroid 17-alpha-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 11210081
DOI: 10.1177/000992280104000101

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