Congenital hypothyroidism: Diagnosis and management of patients

Congenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. Much remains to be known about the nature of this specific condition and the effective treatment of less severely-affected babies. We retrospectively reviewed the data for patients who were diagnosed with congenital hypothyroidism. So for a total of fifteen patients medical record files were thoroughly evaluated. Three (20%) patients were diagnosed with congenital hypothyroidism alone while 12(80%) patients were diagnosed with other disorders along with congenital hypothyroidism but all received treatment for congenital hypothyroidism. A high percentage 6 (40%) of uncertain or unclear cases suggested new genetic aetiologies that still need to be explained. Such cases need further exploration especially less severely affected patients so to avoid complications. It may be useful to identify the genetic aetiology accurately for dyshormogenic, familial, or syndromic forms of CH.