Congenital Hypothyroidism Diagnosed At 9 Years Old

Abstract

Congenital hypothyroidism is a common endocrine disorder of newborn. It is an important cause of global developmental delay. The early diagnosis and treatment is crucial. In this paper we are describing case of congenital hypothyroidism in Saudi Arabia presenting as 9–year-old Bormann boy who was born at home with no neonatal screening and family ignorance. He was discovered incidentally with chest infection, despite of that screening for congenital hypothyroidism has been available in since 1989. This case shows the importance of conducting newborn screening for early detection of congenital hypothyroidism in newborn, which is still being neglected in some developing countries. It also shows the importance of early starting adequate replacement therapy to prevent irreversible sequels.