[About a case of congenital hypothyroidism]

A boy presented at birth dyspnea, jaundice, meteorism and hypospadias; biochemical testing revealed hyponatremia. He benefited on day 4 of neonatal screening for hypothyroidism and congenital adrenal hyperplasia (CAH) and assays showed high concentrations of 17-OHP and TSH. Because of clinical features and hyponatremia, the diagnosis of CAH was plausible. A serum control (17-OHP and TSH) carried out on day 8 showed a normal concentration of 17-OHP and a persistently elevated concentration of TSH confirmed by a second assay a few days later. A 131I scan of neck revealed an ectopic lingual thyroid. The considerable progression of false positive screening tests for CAH is mainly due to the increasing number of premature babies. We show by a retrospective analysis (7 yrs), that children with hypothyroidism also present frequently higher concentrations of 17-OHP than normal children. However, whatever the aetiology (apart from CAH), the concentrations of 17-OHP rapidly normalise.