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CORTISONE REDUCTASE DEFICIENCY
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?
Diagnosis of cortisone reductase deficiency is done through analysis of cortisol to cortisone metabolite levels in blood samples. An endocrinologist diagnoses Cortisone reductase deficiency
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?
CRD was first described more than 20 years ago. Cortisone Reductase Deficiency alone has been reported in fewer than ten cases in total, all but one case were women. Elevated activity can lead to obesity or Type II Diabetes, because of the role of cortisol in carbohydrate metabolism and gluconeogenesis.