PathWhiz

Pathway Description

17-alpha-Hydroxylase Deficiency (CYP17)

Rattus norvegicus

Disease Pathway

17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

References

17-alpha-Hydroxylase Deficiency (CYP17) References

Biglieri EG: 17 Alpha-hydroxylase deficiency. J Endocrinol Invest. 1995 Jul-Aug;18(7):540-4.

Pubmed: 9221272

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 PW000542

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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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