Cortisone reductase deficiency

Cortisone Reductase Deficiency (CRD) is a rare genetic disorder that affects the metabolism of certain steroid hormones. The condition is characterized by a reduced ability or inability to convert cortisone into cortisol, the body's primary stress hormone.

Pronunciation

Cortisone Reductase Deficiency is pronounced as kor-ti-sone re-dukt-ase de-fish-en-see.

Etymology

The term "Cortisone Reductase Deficiency" is derived from the name of the enzyme, "cortisone reductase," which is deficient in individuals with this condition. "Cortisone" is a steroid hormone produced in the adrenal cortex, "reductase" refers to the class of enzymes that catalyze a reduction reaction, and "deficiency" refers to the lack or shortage of something.

Symptoms

Symptoms of Cortisone Reductase Deficiency can vary widely among affected individuals. They may include hirsutism, acne, menstrual irregularities, and infertility. Some individuals may also have hypertension or obesity.

Causes

Cortisone Reductase Deficiency is caused by mutations in the HSD11B1 gene. This gene provides instructions for making an enzyme called 11-beta-hydroxysteroid dehydrogenase type 1, which is involved in the conversion of cortisone to cortisol.

Diagnosis

Diagnosis of Cortisone Reductase Deficiency is based on clinical symptoms, biochemical testing, and genetic testing to identify mutations in the HSD11B1 gene.

Treatment

Treatment for Cortisone Reductase Deficiency typically involves managing the symptoms. This may include hormone replacement therapy or medications to control high blood pressure or other symptoms.

Related Terms

• Cortisol
• Cortisone
• HSD11B1
• Steroid hormone
• Adrenal cortex
• Hirsutism
• Acne
• Menstrual irregularities
• Infertility
• Hypertension
• Obesity

External links

• Medical encyclopedia article on Cortisone reductase deficiency
• Wikipedia's article - Cortisone reductase deficiency

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