With the incidence of only 1 in 10000 births, Congenital Adrenal Hyperplasia (CAH) is a serious disorder leading to abnormal sexual development in children, thereby, disrupting their normal development forever. Although these abnormal changes cannot be reversed, the worsening symptoms can be minimized if CAH is diagnosed and treated early. The clinical practice guidelines for early diagnosis and treatment of CAH are discussed in this article. Congenital Adrenal Hyperplasia, also called as adrenogenital syndrome, is a rare genetic condition characterized by the deficiency of enzymes produced by adrenal gland.

It causes either excessive or deficient production of sex steroids resulting in ambiguous genitalia in affected infants and children. The most common cause of CAH is the deficiency of enzyme 21-hydroxylase. CAH can be divided into 2 types: Classical CAH Non-Classical CAH (NCCAH)…