Congenital adrenal hyperplasia the genetic disease.


Congenital adrenal hyperplasia is one of many autosomal recessive diseases arising from gene mutations for enzymes mediating biochemical steps of mineralocorticoids, glucocorticoids or sex steroids formed by the adrenal glands (steroidogenesis) from cholesterol. Most of these conditions include excessive or defective sex steroid activity, and can alter the development of primary or secondary sex characteristics in some babies, children or adults affected. Each type of CAH has a particular defective gene associated with it. The most common form (90–95 per cent of cases) is the 21-hydroxylase gene found as part of the HLA complex on 6p21.3. 21-Hydroxylase deficiency results from a rare mutation consisting of two strongly homologous near-copies of active gene (CYP21A2) and inactive pseudogene (CYP21A1P) in sequence. Share your comments on topic Email us: Submit your submission through direct online link: For more information visit our website: We accept more than one paper for one author you can also go for membership.