Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.

doi:10.1016/j.jsbmb.2016.06.015

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Article

Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.

The Journal of steroid biochemistry and molecular biology - 1 Jan 2017

Parsa Alan A, New Maria I

Abstract excerpt

Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. There are five key enzymes involved in the production of cortisol. Of these key enzymes, deficiency of 21-hydroxylase is the most commonly defective enzyme leading to CAH representing more than 90% of cases. The low adrenal cortisol...

Topics

Adrenal Cortex
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Anti-Mullerian Hormone
Cerebral Cortex
Cholesterol
Female
Genetic Association Studies
Genetic Testing
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hydrocortisone

Male

Mutation

Phenotype

Pregnancy

Prenatal Diagnosis

Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 27380651
DOI: 10.1016/j.jsbmb.2016.06.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-27380651-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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