Cortisone reductase deficiency 2

MONDO:0013842

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.

Also known as: 11-beta-hydroxysteroid dehydrogenase type 1 deficiency, CORTRD2, HSD11B1 cortisone reductase deficiency, cortisone reductase deficiency 2, cortisone reductase deficiency caused by mutation in HSD11B1, cortisone reductase deficiency type 2

2 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Endocrine system disorder (72) Inborn errors of metabolism (45) Reproductive system disorder (15) Human disease (14) Adrenal gland disorder (8) Disease of genetic or genomic mechanism (2)

Trials to join now! 1 Not yet recruiting 1

New imaging tracer could shed light on adrenal cholesterol

Knowledge-focused Recruiting now

This study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …

Phase: EARLY_PHASE1 • Sponsor: Benjamin Viglianti • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:02 UTC

Cortisone reductase deficiency 2

Broader categories

New imaging tracer could shed light on adrenal cholesterol