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

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...

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Detalles Bibliográficos
Autores principales: Matallana-Rhoades, Audrey Mary, Corredor-Castro, Juan David, Bonilla-Escobar, Francisco Javier, Mecias-Cruz, Bony Valentina, Mejia de Beldjena, Liliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091277/
https://www.ncbi.nlm.nih.gov/pubmed/27821898

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