Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)

Stable Identifier
R-HSA-5579021
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Pathway
Species
Homo sapiens
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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
10857554 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

White, PC, Speiser, PW

Endocr. Rev. 2000
23044877 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood

White, PC, Bachega, TA

Semin. Reprod. Med. 2012
Participants
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Disease
Name Identifier Synonyms
adrenal gland disease 9553
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