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CORTISONE REDUCTASE DEFICIENCY
Cortisone reductase deficiency is caused by dysregulation of the 11β-hydroxysteroid dehydrogenase type 1 enzyme (11β-HSD1), otherwise known as cortisone reductase, a bi-directional enzyme, which catalyses the interconversion of cortisone to cortisol in the presence of NADH as a cofactor. If levels of NADH are low, the enzyme catalyses the reverse reaction, from cortisol to cortisone, using NAD+ as a cofactor. The symptoms are cortisol inhibition, and as a result, excess androgen release can lead to a variety of symptoms. Other symptoms come about as a result of increased levels of circulating androgen. Androgen is a steroid hormone, generally associated with the development of male sex organs and secondary male sex characteristics. The symptoms associated with Cortisone Reductase Deficiency are often linked with Polycystic Ovary Syndrome (PCOS) in females. The symptoms of PCOS include excessive hair growth, Oligomenorrhea, amenorrhea, and infertility. In men, cortisone reductase deficiency results in premature pseudopuberty, or sexual development before the age of nine.
HOW IS CORTISONE REDUCTASE DEFICIENCY DIAGNOSED?
Endocrinologists may prescribe blood tests for analysis of cortisol to cortisone metabolite levels. He or she may also evaluate your symptoms and conduct a thorough physical examination. Laboratory tests that examine the levels of urinary cortisol and cortisone metabolites help in confirming diagnosis
HOW IS CORTISONE REDUCTASE DEFICIENCY TREATED?
Treatment for the disease includes the process of hyperandroginism where a series of anti-androgens are inserted into the body through the use of steroids or external hormones. This in turn releases gonadotropin and luteinizing hormones to balance the same.
DID YOU KNOW?
Increased tetrahydrocortisone in the urine is also a symptom of this ailment.