Pharmacogenomic markers of glucocorticoid response in congenital adrenal hyperplasia

Glucocorticoids (GC) replacement are the mainstay treatment for 21-hydroxylase deficiency (21-OHD), the most common cause of congenital adrenal hyperplasia (CAH), in its classical form. There are novel insights into the genetic basis of the GC action diversity that point to an important role for GC...

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Veröffentlicht in:	PloS one 2022-12, Vol.17 (12), p.e0279298
Hauptverfasser:	Botelho Barra, Cristina, Villela, Thais Ramos, Soares, Nedstâni de Freitas, Colosimo, Enrico Antônio, Belisário, André Rolim, E Silva, Ana Cristina Simões, Silva, Ivani Novato
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Hyperplasia, Congenital - drug therapy Adrenal Hyperplasia, Congenital - genetics Analysis Biological markers Biology and Life Sciences Body mass Body mass index Body size Care and treatment Complications and side effects Congenital diseases Corticosteroids Dexamethasone Diagnosis Disease management Engineering and Technology Female Gene polymorphism Genotype & phenotype Genotypes Glucocorticoid receptors Glucocorticoids Glucocorticoids - therapeutic use Haplotypes Hormones Humans Hydrocortisone Hydroxylase Hyperplasia Hypersensitivity Male Medicine and Health Sciences Metabolic disorders Metabolism Patient outcomes People and Places Pharmacogenetics Pharmacogenomics Phenotypes Polymorphism, Genetic Receptors, Glucocorticoid - genetics Sensitivity Steroids Teenagers
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