Defective CYP21A2 causes AH3

Stable Identifier
R-HSA-5579021
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
ReviewStatus
5/5
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Steroid 21-hydroxylase (CYP21A2) specifically catalyses the 21-hydroxylation of steroids which is required for the adrenal synthesis of mineralocorticoids and glucocorticoids. Defects in CYP21A2 can cause adrenal hyperplasia 3 (AH3; MIM:201910), a form of congenital adrenal hyperplasia (CAH) where cortisol synthesis is defective. This results in increased ACTH levels, causing overproduction and accumulation of cortisol precursors, particularly 17-hydroxyprogesterone (17HPROG). The resultant excessive production of androgens causes virilization. 21-hydroxylase deficiency accounts for more than 90% of CAH cases and ranges from mild to complete loss of activity (White et al. 2000, White & Bachega 2012).
Literature References
PubMed ID Title Journal Year
23044877 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood

Bachega, TA, White, PC

Semin. Reprod. Med. 2012
10857554 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Speiser, PW, White, PC

Endocr. Rev. 2000
Participants
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Disease
Name Identifier Synonyms
adrenal gland disease DOID:9553
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