Congenital Adrenal Hyperplasia in Newborns- How Newborn Screening Tests Can Detect It?
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands’ ability to produce certain hormones, particularly cortisol and aldosterone. Further, 95 % CAH cases are due to 21-Hydroxylase deficiency (21-OHD) which is responsible for the conversion of 17-Hydroxyprogesterone (17-OHP) to cortisol. If CAH is left undetected or poorly managed, it can lead…