The next 150 years of congenital adrenal hyperplasia.
作者： Adina F. Turcu , Richard J. Auchus
DOI: 10.1016/J.JSBMB.2015.05.013
关键词:
摘要: Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description first report, 150 years ago. This article reviews some recent advances genetics, diagnosis and treatment CAH. In addition, we underline aspects where further is required, including, among others, better diagnostic modalities for mild phenotype rare forms disease, elucidation epigenetic factors that lead to different phenotypes patients with identical genotype expending on options controlling androgen excess.
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