Congenital hypothyroidism - agenesis of thyroid gland

Case contributed by Yusra Sheikh


Elevated TSH at 100 µIU/mL. Free T4 <5.2 ng/dL ? agenesis of thyroid gland.

Patient Data

Age: Neonate
Gender: Female

14.8 MBq of Tc-99m pertechnetate was administered intravenously. Cobalt sternal notch marker noted.

There was no isotope uptake demonstrated in the cervical region or tongue base. In this clinical context, appearances are most likely to represent thyroid gland agenesis.

Case Discussion

Congenital hypothyroidism is one of the preventable causes of neurodevelopmental retardation. Newborn screening for thyroid disease can lead to more rapid treatment of abnormal cases. The technetium-99m examination is important in differentiating thyroid agenesis, ectopic thyroid and dyshormonogenesis.

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