Pathophysiology of 11β hydroxylase deficiency

Pathophysiology of 11β hydroxylase deficiency

11β hydroxylase (P450c11) is the mitochondrial enzyme responsible for the biosynthetic step immediately before cortisol production.

More than 30 mutations have been identified in CYP11B1, the gene on chromosome 8, which encodes 11β hydroxylase. Inadequate activity of 11β hydroxylase leads to inadequate cortisol production, an excessive effect of corticotropin, and increased levels of the precursor deoxycorticosterone (DOC).

Steroid biosynthesis is largely diverted to androgen production.

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856