Answer of November 2007

Clinical History:

A 18-year male patient from China with unremarkable past health was referred for short stature. 

Diagnosis:

Congenital hypothyroidism

Discussion:

Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. About 1 in 4000 liver births have congenital hypothyroidism. If untreated, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. It would also cause delayed skeletal maturation and present with short stature as in this patient. Early treatment is essential to prevent learning difficulties. With neonatal screening, the result of long-term intellectual development is very satisfactory and intelligence should be in normal range. As the test for thyroid function is simple and cost effect, nearly all of the developed countries practise neonatal screening and it is rare nowadays in developed society like Hong Kong.