
Congenital adrenal hyperplasia - Symptoms and causes
Mar 22, 2024 · Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic conditions that affect the adrenal glands. The adrenal glands are a pair of walnut-sized organs above the kidneys. They make important hormones, including: Cortisol. This controls the body's response to illness or stress. Mineralocorticoids such as aldosterone.
Genetics of Congenital Adrenal Hyperplasia - PMC
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency.
Congenital Adrenal Hyperplasia - StatPearls - NCBI Bookshelf
Jan 27, 2025 · Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive conditions caused by mutations in genes encoding enzymes involved in the production of glucocorticoids, and sometimes mineralocorticoids and sex steroids, from cholesterol in …
Congenital adrenal hyperplasia - Wikipedia
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [1][2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [3]
Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect your adrenal glands. These glands produce hormones your body needs to function properly.
Congenital Adrenal Hyperplasia - Johns Hopkins Medicine
Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal glands. The two main types of CAH are classic and non-classic. Classic is diagnosed at birth, and nonclassic is typically diagnosed during adolescence.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands.
Classic Congenital Adrenal Hyperplasia: Causes, Symptoms ... - WebMD
May 9, 2024 · CAH is a condition in which a gene that tells the body how to make an enzyme called 21-hydroxylase, which helps make cortisol and aldosterone, doesn't work properly. For you to have CAH, both...
Congenital adrenal hyperplasia | About the Disease | GARD
Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function.
What Causes CAH? Inheritance, Genetics, and When To Get Testing
Jul 31, 2024 · CAH is a genetic condition caused by mutations (changes or variants) in the CYP21A2 gene. This gene provides instructions for the enzyme 21-hydroxylase, which helps produce hormones that regulate salt balance, blood pressure, and the …
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