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CORTISONE REDUCTASE DEFICIENCY
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?
Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol levels which is possible in the blood tests.
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 enzyme; however, symptoms can be treated. Treatment of hyperandrogenism can be done through the prescription of antiandrogens.
DID YOU KNOW?
Cortisone Reductase Deficiency was described first almost 20 years ago