Congenital nephrotic syndrome detected by hypothyroid screening

Abstract

An infant was evaluated for a low thyroxine value, detected on routine neonatal screening for congenital hypothyroidism. She was found to have the congenital nephrotic syndrome, and to be euthyroid with low thyroid binding globulin. Congenital nephrosis can be detected by neonatal screening programs which use thyroxine as the primary screening test, but not by those which use TSH. This may be important in those countries in which the incidence of congenital nephrosis approaches that of congenital hypothyroidism.