Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a group a rare autosomal recessive disorders characterised by a deficiency on one of the enzymes necessary for cortisol biosynthesis. More than 90% of CAH is caused by mutations or deletions in cytochrome P450 21-hydroxylase gene. Impaired glucocorticoid synthesis results in chronic elevation of ACTH causing adrenal hyperplasia and accumulation of steroid precursors such as 17-hydroxyprogesterone (17-HOP). The main goal in CAH managemeng...