Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease causing gender differentation disorder. 21-Hydroxylase deficiency comprises more than 90% of patients and leads to cortisol deficiency. Cortisol deficiency causes life threatining adrenal failure. The diagnosis could be missed and the disease may cause to death especially in male neonate and girls with virilised severely.
After the CAH diagnosis, the management of disease is possible both medical and surgical. Therefore neonatal CAH screening program is performed in many developed countries. Both male and female infant death can be prevented as well as early medical/surgical intervention correct the problems without grow-up. Europe and American Societies of Pediatric Endocrinology recommend the neonatal CAH screening. Because of all these reason neonatal CAH screening is important and necessary in our country that has high prevalence of consanguineous marriage.
Newborn, Screening, Congenital Adrenal Hyperplasia