Congenital Adrenal Hyperplasia Report
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of hereditary pathologies characterized by anomalies in one of the enzymes necessary for the production of three different types of hormones, such as corticosteroids, mineralocorticoids and androgens. An enzyme deficiency makes the body unable to produce one or more of these hormones.
8 genes analyzed
It is recommended if:
This test supports the identification of alterations in one of the enzymes necessary for the production of hormones produced by the adrenal glands, located in the upper part of each kidney, or for those with affected family members.
List of main conditions:
- ACTH-independent macronodular adrenal hyperplasia 2
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- Lipoid adrenal hyperplasia
Simple workflow
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