Article
Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, Part 1.
Clinical pediatrics - 1 Jan 2001
Collett-Solberg P F
Abstract excerpt
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders with defects in the synthesis of cortisol. The synthesis of other steroids such as mineralocorticoids and adrenal/gonadal sex steroids may also be affected. The clinical presentation of the various forms of CAH depend on the following: (1) the affected enzyme, (2) the residual enzymatic activity, (3) the physiologic consequences of...
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