Congenital lipoid adrenal hyperplasia
- Lynnette K Nieman, MD
Lynnette K Nieman, MD
- Section Editor — Adrenal Disease
- Senior Investigator
- Bethesda, MD
- Section Editors
- André Lacroix, MD
André Lacroix, MD
- Section Editor — Adrenal Disease
- Professor of Medicine
- University of Montreal, Quebec, Canada
- Mitchell E Geffner, MD
Mitchell E Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
Congenital adrenal hyperplasia (CAH) refers to several disorders characterized by genetic defects in the proteins and enzymes involved in cortisol biosynthesis (figure 1). The decrease in cortisol production releases the feedback inhibition of cortisol on the pituitary and increases the production of adrenocorticotropic hormone (ACTH). High ACTH causes adrenal hyperplasia and drives excessive accumulation of cortisol precursors and/or overproduction of ACTH-dependent adrenal steroids along other pathways. The clinical manifestations of the different disorders are due to diminished production of cortisol and, depending upon the site of block, decreased or increased production of mineralocorticoids and/or androgens. (See "Adrenal steroid biosynthesis".)
The most common cause of CAH worldwide, accounting for >90 percent of cases, is 21-hydroxylase deficiency (21OHD). The prevalence of these other forms of CAH varies geographically, largely due to founder mutations that are often isolated to specific regions. Other unusual forms of CAH include:
●CYP17A1 deficiencies (combined 17-hydroxylase/17,20-lyase deficiency [17OHD] and isolated 17,20-lyase deficiency [ILD])
●3-beta-hydroxysteroid dehydrogenase type 2 deficiency
●CYP11B1 deficiency (11-hydroxylase deficiency [11OHD])
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