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Uncommon congenital adrenal hyperplasias

Authors
Richard J Auchus, MD, PhD
Wiebke Arlt, MD, DSc, FRCP, FMedSci
Section Editor
Lynnette K Nieman, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

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) [1]. The prevalence of these other forms of CAH varies geographically, largely due to founder mutations that are often isolated to specific regions. This topic review will discuss the clinical and biochemical characteristics of the other forms of CAH, including:

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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Literature review current through: Nov 2016. | This topic last updated: Mon May 02 00:00:00 GMT+00:00 2016.
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