Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical shifts in production glucocorticoids, mineralocorticoids, or sex steroids cholesterol by glands. Universal newborn screening CAH recommended early diagnosis and initiation therapy. The development due a defect CYP21 gene, which encodes 21-hydroxylase e...

The most common form of the congenital adrenal hyperplasia syndrome is caused by an inefficient enzymatic hydroxylation of the adrenal steroids at the 21 position (1-4). The symptoms of this disease can be explained by a deficiency in cortisol secretion resulting in an increased ACTH output and an overproduction of androgens and cortisol precursors by the hyperplastic adrenals (5, 6). About a t...