Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

doi:10.1007/s40291-018-0319-y

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Article

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Molecular diagnosis & therapy - 1 Jun 2018

Concolino Paola, Costella Alessandra

Abstract excerpt

Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by complete or partial defects in one of the several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 95-99% of all cases of CAH are caused b...

Topics

Adrenal Glands
Adrenal Hyperplasia, Congenital
Alleles
Cholesterol
Gene Expression
Genotype
Humans
Hydrocortisone
Mutation
Phenotype
Polymorphism, Genetic
Steroid 21-Hydroxylase
Terminology as Topic

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