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Article

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X.

Colombia medica (Cali, Colombia) - 30 Sept 2016

Matallana-Rhoades Audrey Mary, Corredor-Castro Juan David, Bonilla-Escobar Francisco Javier, Mecias-Cruz Bony Valentina, Mejia de Beldjena Liliana

Abstract excerpt

CASE DESCRIPTION: It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase. CLINICAL FINDINGS: Severe virilization, peripheral hypertension, and early puberty. TREATMENT AND OUTCOME: Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes...

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Identifiers

PMID: 27821898
PMCID: PMC5091277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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