classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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. The condition is classified as an inherited metabolic disorder. CAH is an autosomal recessive condition since it results from inheriting two copies of the faulty CYP21A2 gene responsible for 21-hydroxylase enzyme deficiency. The most common forms of CAH are: classical form, usually diagnosed at birth, and nonclassical, late onset form, typically diagnosed during childhood or adolescence, although it can also be identified in adulthood when seeking medical help for fertility concerns or other related issues, such as PMOS or menstrual irregularities. Carriers for the alleles of the nonclassical forms may have no symptoms, such form of CAH is sometimes called cryptic form. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency. CAH is one of the most common autosomal recessive genetic diseases in humans. Due to the loss of 21-hydroxylase function, patients are unable to efficiently synthesize cortisol. As a result, ACTH (adrenocorticotropic hormone) levels increase, leading to adrenocortical hyperplasia and overproduction of cortisol precursors, which are used in the synthesis of sex steroids, which can lead to signs of androgen excess, including ambiguous genitalia in newborn girls and rapid postnat...