Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.

doi:10.1002/mgg3.70110

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Article

Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.

Molecular genetics & genomic medicine - 1 Jun 2025

Atas Nurgul, Karaoglan Murat, Nacarkahya Gülper

Abstract excerpt

BACKGROUND: Although there a well-known correlation in genotype and phenotype, patients with 21-OHD caused by severe pathogenic variants have better correlation, whereas inconsistencies are more common in the presence of milder variants. This study aimed to evaluate CYP21A2 genotyping and reveal the genotype-phenotype correlation in children diagnosed with 21-OHD in the South-eastern Anatolia region, where ethnic...

Read the complete abstract on PubMed

Topics

Humans
Adrenal Hyperplasia, Congenital
Steroid 21-Hydroxylase
Female
Male
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

High-Throughput Nucleotide Sequencing

Infant

Genetic Association Studies

Phenotype

Genotype

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 40552539
DOI: 10.1002/mgg3.70110
PMCID: PMC12186092

Genes

CYP21A2

Provenance

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