Case 369

Case 369

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?

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:

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