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10.1016/j.jsbmb.2015.05.013

http://scihub22266oqcxt.onion/10.1016/j.jsbmb.2015.05.013
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suck abstract from ncbi


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pmid26047556
      J+Steroid+Biochem+Mol+Biol 2015 ; 153 (ä): 63-71
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  • The next 150 years of congenital adrenal hyperplasia #MMPMID26047556
  • Turcu AF ; Auchus RJ
  • J Steroid Biochem Mol Biol 2015[Sep]; 153 (ä): 63-71 PMID26047556 show ga
  • 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.
  • |Adrenal Cortex Hormones/*therapeutic use [MESH]
  • |Adrenal Hyperplasia, Congenital/diagnosis/*drug therapy/*genetics/history [MESH]
  • |Animals [MESH]
  • |Epigenesis, Genetic [MESH]
  • |Genotype [MESH]
  • |History, 19th Century [MESH]
  • |History, 20th Century [MESH]
  • |History, 21st Century [MESH]


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