Abstract
Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defect of one of the enzymes necessary for biosynthesis of cortisol. A 17-alpha hydroxylase/17,20-lyase deficiency is a rare form of CAH; accounts for about 1% of all cases. It is an autosomal recessive defect in cytochrome P450 17A1 enzyme which leads to impaired cortisol and sex steroid synthesis, with compensatory elevation of ACTH, gonadotropins, corticosterone and 11-deoxycorticosterone (DOC).
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