11-beta-hydroxysteroid dehydrogenase type 1 deficiency

From Encyclopedia & World Directory

Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the hsd11b1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from h6pd deficiency.


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