Cortisone reductase deficiency 1

MONDO:0011503

Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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 11-beta HSD type 1 deficiency.

Also known as: CORTRD1, H6PD cortisone reductase deficiency, apparent cortisone reductase deficiency, cortisone reductase deficiency 1, cortisone reductase deficiency caused by mutation in H6PD, cortisone reductase deficiency type 1, hexose-6-phosphate dehydrogenase deficiency

2 clinical trials for this condition and its sub-types, 0 tagged with Cortisone reductase deficiency 1 itself.

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Including sub-types (2) Tagged with Cortisone reductase deficiency 1 (0)

Trials to join now! 1 Not yet recruiting 1

Tiny trial to see if a dye helps adrenal surgery

Knowledge-focused Not yet recruiting

This study will look at 12 people having surgery to remove an adrenal gland (adrenalectomy) using robotic or laparoscopic methods. Some surgeries will use a green dye called Indocyanine Green (ICG) to help the surgeon see better, while others will not. The main goal is to track c…

Sponsor: University of Roma La Sapienza • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:32 UTC

Cortisone reductase deficiency 1

Where it sits in the disease tree

Tiny trial to see if a dye helps adrenal surgery