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10.1016/j.ecl.2015.02.002

http://scihub22266oqcxt.onion/10.1016/j.ecl.2015.02.002
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C4506691!4506691!26038201
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suck abstract from ncbi


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pmid26038201      Endocrinol+Metab+Clin+North+Am 2015 ; 44 (2): 275-96
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  • Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia #MMPMID26038201
  • Turcu AF; Auchus RJ
  • Endocrinol Metab Clin North Am 2015[Jun]; 44 (2): 275-96 PMID26038201show ga
  • Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD.
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