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Article

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.

Frontiers in endocrinology - 1 Jan 2022

Marino Roxana, Moresco Angélica, Perez Garrido Natalia, Ramirez Pablo, Belgorosky Alicia

Abstract excerpt

Congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is an autosomal recessive disorder. The 21-hydroxylase enzyme P450c21 is encoded by the CYP21A2 gene located on chromosome 6p21.33 within the HLA major histocompatibility complex. This locus also contains the CYP21A1P, a non-functional pseudogene, that is highly homologous to the CYP21A2 gene. Other duplicated genes are C4A and C4B, that...

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Identifiers

PMID: 35282436
DOI: 10.3389/fendo.2022.803226
PMCID: PMC8913572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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