AUTHOR=Lauffer Peter , Zwaveling-Soonawala Nitash , Naafs Jolanda C. , Boelen Anita , van Trotsenburg A. S. Paul TITLE=Diagnosis and Management of Central Congenital Hypothyroidism JOURNAL=Frontiers in Endocrinology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.686317 DOI=10.3389/fendo.2021.686317 ISSN=1664-2392 ABSTRACT=
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pituitary hormone deficiencies (CPHD). In recent years several novel genetic causes of isolated central CH have been discovered (