title: The next 150 years of congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess.
authors.affiliation: Division of Metabolism, Diabetes, and Endocrinology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48019, United States.
authors.forename: Adina F
authors.initials: AF
authors.lastname: Turcu
authors.affiliation: Division of Metabolism, Diabetes, and Endocrinology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48019, United States; Department of Pharmacology, University of Michigan, Ann Arbor, MI 48019, United States. Electronic address: rauchus@med.umich.edu.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Auchus
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics* / Q000266:history; D000818:Animals; D044127:Epigenesis, Genetic; D005838:Genotype; D049672:History, 19th Century; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans
chemical_list: D000305:Adrenal Cortex Hormones