Congenital Hypothyroidism: A Report of Two Isolated Cases at National Hospital Abuja

Background: Congenital hypothyroidism is a disorder of thyroid gland morphogenesis. It is the commonest endocrine disorder in newborns occurring in 1:4,000 to 1:3,000 live births. The incidence in Nigeria has not been well documented probably due to lack of neonatal screening. Aim/objectives: To raise awareness of physicians to have a high index of suspicion for this treatable cause of mental retardation in children presenting with unusual symptoms. Case presentation: Case 1 presented to our hospital at 18 months of age with a respiratory tract infection. She had delayed developmental milestones and coarse facies among other features. This prompted a work up for hypothyroidism. Thyroid function tests done showed a profoundly hypothyroid picture and she was commenced on levothyroxine. Case 2 was referred to our facility at ninth week of age on suspicion of a congenital heart disease. The parents had complained of dry skin to the referring physician. She had a hypothyroid profile on laboratory evaluation. Conclusion: Congenital hypothyroidism should be suspected in children with unusual symptoms as it is a treatable cause of short stature and mental retardation. The introduction of newborn screening will go a long way in identifying the children in need of urgent thyroid replacement to prevent the negative consequences of untreated hypothyroidism.