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Congenital Adrenal Hyperplasia and Others

المؤلف:  Norman, A. W., & Henry, H. L.

المصدر:  Hormones

الجزء والصفحة:  3rd edition , p236

2026-08-19

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 Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the 3β-hydroxysteroid deydrogenase, the 11β-hydroxylase deficiency, the 21-hydroxylase, and virilization. Congenital adrenal hyperplasia can affect both girls and boys. About 1 in 10,000 to 18,000 children are born with some form of congenital adrenal hyperplasia. Under this heading is a family of diseases caused by a single enzymatic defect that results in the reduced synthesis of cortisol. Prenatal diagnosis is especially important in this disease. Table 1 lists the properties of the five various forms of adrenal hyperplasia.

Table1. Forms of Congenital Adrenal Hyperplasia

Glucocorticoid resistance also is rare and may be based on point mutations in the glucocorticoid receptor that reduce the effectiveness of negative feedback by cortisol. As a consequence, there will be elevated levels of circulating cortisol. Clinical problems can be mild to excessive due to high levels of circulating cortisol or other steroids. Other variations generating high or low levels of glucocorticoids or mineralocorticoids can be found in the clinical literature.