OBJECTIVE: To evaluate the etiology of primary congenital hypothyroidism (PCH) identified in the Newborn Screening Program from the state of Santa Catarina, Brazil, from July 2007 to June 2009 in the first visit. SUBJECTS AND METHODS: A prospective study was performed in 45 patients with PCH. For the etiological diagnosis, history, physical examination, and additional tests (TSH, free thyroxine, thyroglobulin, bone age assessment, thyroid ultrasound) were carried out in the first visit. RESULTS: The etiology was established in the first […]