Medical history 3-year-old female patient is followed-up by the NUPAD-UFMG's Congenital Hypothyroidism ambulatory since the neonatal period. Treatment was suspended a month ago to investigate the etiology of the disease. Thyroid ultrasonography revealed an eutopic gland with volume, parenchyma and blood flow within normality. Pertechnetate scintigraphy (99mTcO4-) demonstrated 0.1% capture (RV 1-3%). Thyroid gland ultrasonography. A: Thyroid gland isthmus, transversal view. B: Right and left thyroid lobes, transversal view. C: Right lobe, longitudinal view. D Left lobe, longitudinal view. A: Submental space ultrasonography, transversal view. B: Sublingual space, transversal view. Thyroid gland Doppler ultrasonography, longitudinal views. A: Anterior neck region scintigraphy. B: Anterior neck region scintigraphy with chin and wishbone (furcula) delimitation. Pergunta:Qual o provável diagnóstico etiológico do hipotireoidismo congênito desta paciente? Ectopic thyroid Dyshormonogenesis due to sodium/iodide cotransporter (NIS) defect. Thyroid peroxidase (TPO) deficiency. Question (2016 – UFPR - Adapted) Female newborn, born full term, vaginal delivery, APGAR score of 9 and 10, weight of 2.900 g, now with 24 hours of life, good suction and normal exam. Mark the alternative which corresponds to the most adequate way to diagnose congenital hypothyroidism: Triage test at 24 hours of life to dose serum TSH if the newborn is to receive hospital discharge. The possibility of a false negative result should be considered. Keep the child clinically observed, once there are no symptoms of congenital hypothyroidism. Dose serum TSH with 30 days of life and consider the diagnosis if the level is greater than 10uU/mL. Dose serum TSH between 2 and 5 days of life and consider hypothyroidism when it is elevated, regardless of T4 values. Dose serum T3 and T4 immediately and, if values are low, start treating. Dose serum TSH with 48 hours of life and consider the diagnosis when the value is greater than 50 uU/mL Time is Up! Time's up
