Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt

Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic features are seen in congenital hypothyroidism (CH) and early infant death in males with salt loosing CAH (as most females are discovered by presence of atypical genitalia, while males appeared normal).Newborn screening (NBS) for congenital hypothyroidism (CH) was more rapidly adopted throughout Egypt, while NBS for congenital adrenal hyperplasia (CAH) was recently added.Early treatment of CAH is much simpler with taking a pill a day unlike CAH requiring multiple medication doses, and possibly surgery apart from enteral and parenteral stress doses during adrenal crisis.Early newborn screening specifically for those two disorders has a great importance for early diagnosis, early intervention and prevention of catastrophic outcomes.