摘要
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.
