21-hydroxylase deficiency
21-Hydroxylase Deficiency
21-Hydroxylase deficiency (pronounced twenty-one hydroxylase deficiency) is a genetic disorder that results in the body's inability to produce certain hormones known as corticosteroids. This deficiency is caused by mutations in the CYP21A2 gene.
Etymology
The term "21-Hydroxylase deficiency" is derived from the name of the enzyme that is deficient in individuals with this condition. The enzyme, 21-hydroxylase, is responsible for the final steps in the production of corticosteroids.
Symptoms
Symptoms of 21-Hydroxylase deficiency can vary greatly among affected individuals. They may include salt-wasting crisis, virilization in females, and precocious puberty in males.
Diagnosis
Diagnosis of 21-Hydroxylase deficiency typically involves genetic testing to identify mutations in the CYP21A2 gene. Additional tests may include hormone testing to measure levels of certain hormones in the body.
Treatment
Treatment for 21-Hydroxylase deficiency typically involves hormone replacement therapy to replace the deficient hormones. This may include glucocorticoids, mineralocorticoids, and in some cases, sex steroids.
Related Terms
- CYP21A2
- Corticosteroids
- Genetic disorder
- Hormone
- Salt-wasting crisis
- Virilization
- Precocious puberty
- Genetic testing
- Hormone testing
- Glucocorticoids
- Mineralocorticoids
- Sex steroids
External links
- Medical encyclopedia article on 21-hydroxylase deficiency
- Wikipedia's article - 21-hydroxylase deficiency
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