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Article

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Molecular diagnosis & therapy - 1 Dec 2017

Prado Mayara Jorgens, de Castro Simone Martins, Kopacek Cristiane, de Mello Maricilda Palandi, Rispoli Thaiane, Grandi Tarciana, da Silva Cláudia Maria Dornelles, Rossetti Maria Lucia Rosa

Abstract excerpt

BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to...

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

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Source

Identifiers

PMID: 28819757
DOI: 10.1007/s40291-017-0296-6

Genes

CYP21A2

Variants

Provenance

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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