Cortisone reductase deficiency is an inborn error of steroid metabolism due to a deficiency of an enzyme called cortisone reductase. This enzyme is needed to convert cortisone to cortisol. The symptoms include:
• High level of tetrahydrocortisone in urine
• Premature puberty in males
• Accelerated bone age
• Enlarged adrenal glands
• Oligomenorrhea in females
• Excessive body hair in females
• Acne in females
• Abdominal obesity
• Excessive androgen production
• Menstrual abnormalities
• Female infertility
• Insulin resistance
• Thinning of scalp hair in females
HOW IS CORTISONE REDUCTASE DEFICIENCY DIAGNOSED?
An Endocrinology expert would conduct a series of blood tests to check on the cortisol levels in the body along with performing other relevant hormonal tests through blood and saliva.
HOW IS CORTISONE REDUCTASE DEFICIENCY TREATED?
The 5 Alpha Cortisone Reductase Deficiency method is one of the most favoured forms of treatment for this disease. The prescription of antiandrogens can also help in treating patients who are suffering from this ailment as it helps in releasing good amount of testosterone hormones. Most of the treatment centres around treating the symptoms.
DID YOU KNOW?
Cortisone Reductase Deficiency was described first almost 20 years ago