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Article

Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.

Clinical endocrinology - 1 May 2023

Ermakhanova Tamara, Bazarbekova Rimma, Svyatova Gulnara, Dossanova Ainur

Abstract excerpt

OBJECTIVE: The purpose of this study was to investigate the clinical manifestation of various forms of congenital adrenal hyperplasia (CAH) in children of the Republic of Kazakhstan, depending on their genotype. DESIGN: The study analysed 50 patients diagnosed with CAH from 7 regions of Kazakhstan with different ethnic origins: 35 Kazakhs (70.0%), 8 Russians (16.0%), 2 Turks (4.0%), 2 Ukrainians (4.0%), 2 Uzbeks...

Topics

Child
Humans
Adrenal Hyperplasia, Congenital
Steroid 21-Hydroxylase
Phenotype
Genotype
Mutation
Genetic Association Studies

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36494191
DOI: 10.1111/cen.14859

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-36494191-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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