Congenital goitre and juvenile hypothyroidism in a Nigerian child

Summary

A 7-year-old girl from an area where endemic goitre is not known presented with a collar-like goitre which on palpation was diffusely nodular. Investigations showed high TSH and ‘low’ thyroxine serum levels. She was neither mentally retarded nor spastic. The goitre was reduced in size with supplementary 1-thyroxine sodium but on withdrawal of therapy the gland size increased. An inborn error of thyroxine synthesis is the most likely cause of the condition. In our environment, the first line of treatment should not be surgery but rather a thoughtful approach to the causes of hypothyroidism.