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.

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.

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 (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex.

Aug 27, 2022 · 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. An imbalance in these hormones can cause symptoms affecting sexual development.

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) 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 (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands. [1] It is classified as an inherited metabolic disorder.

Mar 2, 2018 · CAH refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range …

Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls. The adrenal glands are located above the kidneys and produce three types of hormones: People with CAH cannot properly make cortisol and in some cases, are unable to produce aldosterone.