Cortisone Reductase Deficiency is a medical condition caused by the dysregulation of the cortisone reductase enzyme. Cortisone reductase is a bi-directional enzyme that catalyses the interconversion of cortisone to cortisol in the presence of NADH as a cofactor. Cortisol is a glucocorticoid that has an important role in biochemical pathways. The deficiency of this enzyme results in cortisol inhibition, which ultimately leads to the release of excess androgen. Symptoms are polycystic ovary syndrome in women, excessive hair growth, Oligomenorrhea, amenorrhea, and infertility. In males, it causes precocious pseudopuberty
HOW IS CORTISONE REDUCTASE DEFICIENCY DIAGNOSED?
The diagnosis of this condition is usually done with the help of an Endocrinologist, who will carry out several lab tests using blood and urine samples before conducting other tests to check for bone damage with the help of MRI scans and imaging as well as X Rays.
HOW IS CORTISONE REDUCTASE DEFICIENCY TREATED?
As of now, there is no treatment for cortisone reductase deficiency. Shots of cortisol are quickly metabolised into cortisone by the dysregulated 11β-HSD1 enzyme; however, symptoms can be treated. Treatment of hyperandrogenism can be done through the prescription of antiandrogens. They do so by inhibiting the release of gonadotropin and luteinizing hormone, both hormones in the pituitary, responsible for the production of testosterone.
DID YOU KNOW?
Cortisone Reductase Deficiency was described first almost 20 years ago