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Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Clinical endocrinology - 1 Jul 2020

Fernández Cecilia S, Taboas Melisa, Bruque Carlos D, Benavides-Mori Belén, Belli Susana, Stivel Mirta, Oneto Adriana, Pasqualini Titania, Delea Marisol, Espeche Lucía D, Kolomenski Jorge E, Alba Liliana, Buzzalino Noemí, Dain Liliana

Abstract excerpt

CONTEXT: 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms-salt wasting and simple virilizing-and a mild or nonclassical (NC). Several studies have reported the frequency of pathogenic variants in different populations, although few of them included a large number of NC patients. OBJECTIVE: To analyse the CYP21A2 gene defects in a large...

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PMID: 32289882
DOI: 10.1111/cen.14190

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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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