Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.

Luciana Pinto ValadaresAlessandra Christine Vieira PfeilstickerSelma Moreira de Brito SousaSarah Caixeta CardosoOlivia Laquis de MoraesLuiz Claudio Gonçalves de CastroRenata Santarem de OliveiraAdriana Lofrano-Porto

Published in: Endocrine (2018)

CYP11B1 mutations were associated with highly variable phenotypes, from mild to severe virilization, and early-onset hypertension or salt wasting. Further analysis of variants in other hypertension-related genes, steroid synthesis and metabolism compensatory pathways, and/or the investigation of chimeric CYP11B genes are needed to clarify the phenotypic heterogeneity in 11β-hydroxylase deficiency.

Keyphrases

early onset
blood pressure
late onset
genome wide
copy number
replacement therapy
single cell
case control
gene expression
arterial hypertension
smoking cessation
transcription factor
genome wide identification