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Review
. 2015 Jun;44(2):275-96.
doi: 10.1016/j.ecl.2015.02.002.

Adrenal steroidogenesis and congenital adrenal hyperplasia

Adina F Turcu  1 , Richard J Auchus  2
Affiliations
Review

Adrenal steroidogenesis and congenital adrenal hyperplasia

Adina F Turcu et al. Endocrinol Metab Clin North Am. 2015 Jun.

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.

Keywords: 21-Hydroxylase; Adrenal insufficiency; Ambiguous genitalia; Androgen; Congenital adrenal hyperplasia; Disorder of sex development; Steroid hydroxylase; Steroidogenesis.

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Figures

Figure 1
Figure 1
A. Major adrenal steroid synthesis pathways. B. Adrenal zonation and enzyme expression pattern. StAR, steroidogenic acute regulatory protein; CYP11A1, side-chain cleavage enzyme; HSD3B2, 3β-hydroxysteroid dehydrogenase type 2; CYP21A2, 21-hydroxylase; CYP11B2, aldosterone synthase; CYP17A1, 17α-hydroxylase/17,20-lyase; CYP11B1, 11β-hydroxylase; CYB5A, cytochrome b5; AKR1C3, 17β-hydroxysteroid dehydrogenase type 5; SULTA1/STS, steroid sulfotransferase type 2A1.
Figure 2
Figure 2
Pathways of steroid hormone synthesis in 21-hydroxylase deficiency, including backdoor pathway and 11-oxygenated androgens. HSD3B2, 3β-hydroxysteroid dehydrogenase type 2; CYP17A1, 17α-hydroxylase/17,20-lyase; CYB5A, cytochrome b5; AKR1C3, 17β-hydroxysteroid dehydrogenase type 5; AKR1C2,4, aldo-keto reductase types 1C2 and 1C4; HSD17B6, 17β-hydroxysteroid dehydrogenase type 6 (an oxidative 3α-HSD); SRD5A1/2, 5α-reductase, types 1 and 2.
Figure 3
Figure 3
Schematic evaluation of 21OHD based on baseline and stimulated 17OHP values.
Figure 4
Figure 4
Prader scale, female external genitalia viewed from above (top) and in cross-section (bottom).
See this image and copyright information in PMC

References

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