title: Adrenal steroidogenesis and congenital adrenal hyperplasia.
abstract: 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 (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.
authors.affiliation: Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
authors.forename: Adina F
authors.initials: AF
authors.lastname: Turcu
authors.affiliation: Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Pharmacology, University of Michigan, Room 5560A MSRBII, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: rauchus@med.umich.edu.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Auchus
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000453:epidemiology; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000453:epidemiology / Q000378:metabolism*; D018246:Adrenocortical Adenoma / Q000453:epidemiology; D000450:Aldosterone / Q000096:biosynthesis; D000728:Androgens / Q000096:biosynthesis*; D003687:Dehydroepiandrosterone / Q000096:biosynthesis; D019314:Dehydroepiandrosterone Sulfate / Q000378:metabolism; D005938:Glucocorticoids / Q000096:biosynthesis* / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D006854:Hydrocortisone / Q000096:biosynthesis; D008901:Mineralocorticoids / Q000096:biosynthesis* / Q000627:therapeutic use; D018209:Myelolipoma / Q000453:epidemiology; D012307:Risk Factors
chemical_list: D000728:Androgens; D005938:Glucocorticoids; D008901:Mineralocorticoids; D003687:Dehydroepiandrosterone; D000450:Aldosterone; D019314:Dehydroepiandrosterone Sulfate; D006854:Hydrocortisone
keywords: 21-Hydroxylase; Adrenal insufficiency; Ambiguous genitalia; Androgen; Congenital adrenal hyperplasia; Disorder of sex development; Steroid hydroxylase; Steroidogenesis