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Inheritance and Genetics of Congenital adrenal hyperplasia

Congenital adrenal hyperplasia: Genetics Information

Genetics of Congenital adrenal hyperplasia: The most common cause of CAH is a deficiency of the enzyme 21-hydroxylase. The gene for this enzyme lies on chromosome 6. There are two copies of the gene because of a duplication that occurred hundreds of thousands of years ago. One gene is called CYP21 and is the active gene; the other is called CYP21P and is inactive. The 21-hydroxylase deficiency is unique because most mutations result from the transfer of genetic information between inactive and active genes.

Various mutations of the 21-hydroxylase gene result in various levels of enzyme. As a consequence, there is a spectrum of effects. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Congenital adrenal hyperplasia refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.


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