ESPE Abstracts

Introduction: Neonatal screening has undoubtedly proved its worth in detecting cases of congenital hypothyroidism at an early stage. If there are several affected individuals in a family, this should be a reason to consider a hereditary form and to initiate molecular genetic testing.Case descriptions: the firstborn sister (15 yrs) presented with grossly elevated TSH of 223 mU/ml in neonatal screening and with congenital ...