11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Cortisone Reductase Deficiency Type 2