Article
Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.
Molecular and cellular endocrinology - 1 Oct 2021
Villela Thais Ramos, Barra Cristina Botelho, Belisário André Rolim, Luizon Marcelo Rizzatti, Simões E Silva Ana Cristina, Silva Ivani Novato
Abstract excerpt
BACKGROUND: Lifelong glucocorticoid (GC) replacement is the mainstay treatment of congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency (21-OHD). Challenges posed by therapeutic management of these patients are well known, but novel insights into the variability in clinical response to GC highlight a role for single nucleotide polymorphisms (SNPs) of the glucocorticoid receptor gene...
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