Cortisone reductase deficiency

From WikiMD's Wellness Encyclopedia

Cortisone Reductase Deficiency is a rare genetic condition that affects the metabolism of certain hormones. It is characterized by a reduced ability to convert the hormone cortisone to cortisol. This condition is caused by mutations in the genes encoding the enzymes 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) and hexose-6-phosphate dehydrogenase (H6PD).

Symptoms[edit | edit source]

The symptoms of Cortisone Reductase Deficiency can vary widely, but often include hirsutism, acne, menstrual irregularities, and obesity. Some individuals may also experience hypertension, insulin resistance, and glucose intolerance.

Causes[edit | edit source]

Cortisone Reductase Deficiency is caused by mutations in the HSD11B1 and H6PD genes. These genes encode the enzymes 11β-HSD1 and H6PD, respectively, which are involved in the conversion of cortisone to cortisol.

Diagnosis[edit | edit source]

Diagnosis of Cortisone Reductase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The diagnosis is confirmed by finding elevated levels of cortisone and reduced levels of cortisol in the urine, and by identifying mutations in the HSD11B1 and H6PD genes.

Treatment[edit | edit source]

Treatment for Cortisone Reductase Deficiency is aimed at managing the symptoms and may include hormone replacement therapy, lifestyle modifications, and medications to control hypertension and insulin resistance.

See Also[edit | edit source]

Cortisone reductase deficiency Resources
Wikipedia
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD