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Article

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Acta chimica Slovenica - 1 Jan 2016

Grošelj Urh, Žerjav Tanšek Mojca, Trebušak Podkrajšek Katarina, Hovnik Tinka, Battelino Tadej, Vita Dolžan

Abstract excerpt

Extraadrenal enzymes such as CYP2C19 may participate in residual 21-hydroxylation of progesterone leading to milder phenotypes of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Among 94 21OHD patients 28 were homozygous or compound heterozygous for severe CYP21A2 mutations. We have reviewed their clinical phenotype and obtained information on maintenance doses of hydrocortisone and...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Child
Child, Preschool
Cytochrome P-450 CYP2C19
Female
Fludrocortisone
Genotype
Humans
Hydrocortisone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Polymorphism, Genetic

Source

Identifiers

PMID: 26970786
DOI: 10.17344/acsi.2015.1797

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26970786-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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