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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.