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Article

Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.

Trends in endocrinology and metabolism: TEM - 1 Jul 2021

Ilany Jacob, Cohen Ohad

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complicated condition genetically, clinically, and treatment wise. Genetically, there are numerus mutations with different effect on enzyme activity that make genetic diagnosis a challenge. Clinically, there are a wide ran...

Topics

Adrenal Hyperplasia, Congenital
Heterozygote
Humans
Mutation
Steroid 21-Hydroxylase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33994073
DOI: 10.1016/j.tem.2021.04.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-33994073-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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