Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

doi:10.1007/s40618-021-01648-8

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Article

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

Journal of endocrinological investigation - 1 Feb 2022

Mahmoud R A A, Amr N H, Toaima N N, Kamal T M, Elsedfy H H

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to autosomal recessive 21-hydroxylase deficiency (21-OHD) is caused by defects in the CYP21 (CYP21A2) gene. Several mutations have been identified in the CYP21 (CYP21A2) gene of patients with 21-OHD. We aimed at determining the frequency of the...

Topics

Adrenal Hyperplasia, Congenital
Child
Cortisone
Egypt
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant
Male
Mutation
Patient Selection
Steroid 21-Hydroxylase
Virilism
Water-Electrolyte Imbalance
Young Adult

Source

Open in PubMed

Identifiers

PMID: 34341969
DOI: 10.1007/s40618-021-01648-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-34341969-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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