• Endocrinol. Metab. Clin. North Am. · Jun 2015

    Review

    Adrenal steroidogenesis and congenital adrenal hyperplasia.

    • Adina F Turcu and Richard J Auchus.
    • Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
    • Endocrinol. Metab. Clin. North Am. 2015 Jun 1; 44 (2): 275-96.

    AbstractAdrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) 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 more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. Copyright © 2015 Elsevier Inc. All rights reserved.

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