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Pathway Description

Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Rattus norvegicus

Disease Pathway

Adrenal hyperplasia type 3, also called Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, is caused by a defect in the CYP21A2 gene which codes for Steroid 21-hydroxylase (21-hydroxylase). Steroid 21-hydroxylase catalyzes hydroxylation of 17-hydroxyprogesterone to 11-deoxycortisol in the glucocorticoid pathway from pregnenolone to cortisol. It also catalyzes hydroxylation of progesterone to 11-deoxycorticosterone (DOC) in the mineralocorticoid pathway on its way from pregnenolone to aldosterone. A defect in this enzyme results in accumulation of 17-Hydroxyprogesterone, progesterone and 17a-Hydroxypregnenolone, androstenedione, and testosterone; decreased levels of cortexolone, deoxycorticosterone, aldosterone and cortisol. Symptoms include salt-wasting crises in infancy due to the lack of aldosterone, like spitting, poor weight gain, vomiting, severe dehydration, and circulatory collapse. The high level of testosterone results in virilization and genital ambiguity of female infants.

References

Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency References

White PC, Bachega TA: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood. Semin Reprod Med. 2012 Oct;30(5):400-9. doi: 10.1055/s-0032-1324724. Epub 2012 Oct 8.

Pubmed: 23044877

https://www.omim.org/entry/201910

Steroidogenesis References

This pathway was propagated using PathWhiz - Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.

Propagated from PW000177

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Visualize Compound Data

		11-Dehydrocorticosterone
		11b,17a,21-Trihydroxypreg-nenolone
		11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al
		11b,21-Dihydroxy-5b-pregnane-3,20-dione
		11b-Hydroxyprogesterone
		17-Hydroxyprogesterone
		17a,20a-Dihydroxycholesterol
		17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
		17a-Hydroxypregnenolone
		17α,21-Dihydroxypregnenolone
		18-Hydroxycorticosterone
		20a,22b-Dihydroxycholesterol
		20α-Hydroxycholesterol
		21-Deoxycortisol
		21-Hydroxy-5b-pregnane-3,11,20-trione
		21-Hydroxypregnenolone
		22b-Hydroxycholesterol
		3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al
		3a,21-Dihydroxy-5b-pregnane-11,20-dione
		3a-Hydroxy-5b-pregnane-20-one
		4-Methylpentanal
		5a-Pregnane-3,20-dione
		Aldosterone
		Cholesterol
		Cortexolone
		Corticosterone
		Cortisol
		Cortisone
		Deoxycorticosterone
		Dihydrocortisol
		Heme
		NAD
		NADH
		NADP
		NADPH
		Oxygen
		Pregnenolone
		Progesterone
		Tetrahydrocorticosterone
		Tetrahydrocortisol
		Tetrahydrocortisone
		Water

Visualize Protein Data

		3 beta-hydroxysteroid dehydrogenase type 5
		3-alpha-hydroxysteroid dehydrogenase
		3-oxo-5-beta-steroid 4-dehydrogenase
		Cholesterol side-chain cleavage enzyme, mitochondrial
		Corticosteroid 11-beta-dehydrogenase isozyme 1
		Corticosteroid 11-beta-dehydrogenase isozyme 2
		Cytochrome P450 11B3, mitochondrial
		Steroid 17-alpha-hydroxylase/17,20 lyase
		Steroid 21-hydroxylase

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