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Congenital Adrenal Hyperplasia

Genetic Test

The CYP11B1 gene encodes an enzyme in the adrenal cortex that converts progesterone to cortisol.

Disease Description

This genetic disorder affects the adrenal glands, causing excessive secretion of various hormones, including cortisol and aldosterone. Hormones produced by the adrenal gland regulate metabolism, growth, and development, so symptoms such as hypertension, vomiting, and diarrhea may occur.