Congenital Adrenal Hyperplasia (CAH) is due to an inherited defect in any of the enzymes necessary for steroid biosynthesis. Clinically, a deficiency of a particular step results in lack of cortisol and other steroid hormones synthesis and also in the accumulation of precursor steroids proximal to the blocked step. Most of the proteins involved in cortisol biosynthesis have been purified from animal adrenal gland. By means of molecular techniques, many of the corresponding genes have been cloned and specific mutations causing some cases of CAH have been identified. These advances have important clinical implications for early prenatal diagnosis and treatment of CAH. This article reviews the principal molecular approaches to the study and diagnosis of CAH due to 21-hydroxylase deficiency.
|Translated title of the contribution||Study of 21 hydroxylase deficiency by molecular techniques|
|Number of pages||11|
|Journal||Giornale Italiano di Chimica Clinica|
|Publication status||Published - 1993|
ASJC Scopus subject areas
- Clinical Biochemistry