Congenital Adrenal Hyperplasia (CAH) synonyms

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are responsible for producing hormones that regulate various bodily functions. It is characterized by an abnormal enlargement (hyperplasia) of the adrenal glands from birth (congenital). CAH is caused by mutations in genes that are involved in the production of cortisol, a hormone that helps regulate metabolism, blood pressure, and the body's response to stress.

CAH is also known by several other names, which are often used interchangeably:

• Adrenal Hyperplasia: This term refers to the abnormal enlargement of the adrenal glands, which is a key feature of CAH.


• 21-Hydroxylase Deficiency: CAH is most commonly caused by a deficiency in the enzyme 21-hydroxylase, which is necessary for the production of cortisol. This deficiency leads to an overproduction of androgens (male sex hormones) and a deficiency of cortisol and aldosterone (a hormone that helps regulate salt and water balance).


• Adrenogenital Syndrome: This term is often used to describe the form of CAH that affects the development of the genitals in both males and females. The excess androgens produced in CAH can cause ambiguous genitalia in females and early virilization (masculinization) in males.


• Non-Classical CAH: This term refers to a milder form of CAH that may not be diagnosed until later in life. It is characterized by less severe enzyme deficiency and may present with symptoms such as irregular menstrual periods, excessive hair growth, and acne.

It is important to note that CAH is a lifelong condition that requires ongoing medical management. Treatment typically involves hormone replacement therapy to restore normal hormone levels and manage symptoms. Early diagnosis and treatment are crucial to prevent complications and ensure optimal growth and development.