Cortisone reductase deficiency: Difference between revisions
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Revision as of 04:18, 18 February 2025
Cortisone Reductase Deficiency is a rare genetic condition that affects the metabolism of certain hormones. It is characterized by a reduced ability to convert the hormone cortisone to cortisol. This condition is caused by mutations in the genes encoding the enzymes 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) and hexose-6-phosphate dehydrogenase (H6PD).
Symptoms
The symptoms of Cortisone Reductase Deficiency can vary widely, but often include hirsutism, acne, menstrual irregularities, and obesity. Some individuals may also experience hypertension, insulin resistance, and glucose intolerance.
Causes
Cortisone Reductase Deficiency is caused by mutations in the HSD11B1 and H6PD genes. These genes encode the enzymes 11β-HSD1 and H6PD, respectively, which are involved in the conversion of cortisone to cortisol.
Diagnosis
Diagnosis of Cortisone Reductase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The diagnosis is confirmed by finding elevated levels of cortisone and reduced levels of cortisol in the urine, and by identifying mutations in the HSD11B1 and H6PD genes.
Treatment
Treatment for Cortisone Reductase Deficiency is aimed at managing the symptoms and may include hormone replacement therapy, lifestyle modifications, and medications to control hypertension and insulin resistance.
