Publications by authors named "Thais R Villela"
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 receptor (GR) gene polymorphisms, suggesting a possible modulation in occurrence of metabolic disorders, what may be relevant to clinical management of 21-OHD. The aim of this study was to investigate whether the five GR gene polymorphisms Tth111I, ER22, 23EK, BclI, 9β (rs10052957, rs6189, rs6190, rs41423247, rs6198) and their combination into haplotypes are associated to different GC response in a cohort of classic 21-OHD subjects.
View Article and Find Full Text PDFBackground: 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 (NR3C1).
Aim: To assess whether six commonly studied NR3C1 SNPs, which were previously associated with modified response to GC, are associated with CAH.
Article Synopsis
- - Laron's syndrome (LS) is a rare genetic disorder caused by insensitivity to growth hormone due to mutations in the GH receptor gene, affecting the body's growth signaling pathways.
- - A study reported two sisters from a consanguineous family in Brazil, both showing signs typical of LS, including significantly below-average height and abnormal hormone levels.
- - A specific genetic mutation (c.1A>T in GHR exon 2) was identified in the sisters, previously unreported in Brazilian patients, and is linked to LS, alongside a summary of 21 other known Brazilian LS cases.