Purpose of review: Congenital hypothyroidism is a common worldwide condition. Due in part to increasingly widespread newborn screening, the number of patients with this diagnosis is increasing. In this review, we discuss currently available imaging techniques and the benefits and limitations of these techniques in evaluating congenital hypothyroidism.
Recent findings: Recent work has demonstrated an increasing diagnosis of congenital hypothyroidism with normally located glands and mildly decreased thyroid function. Increasingly more genetic abnormalities have been recognized in the hormone synthesis pathways. These cases may have lower or shorter term treatment requirements than the more common severe forms of congenital hypothyroidism, and the ability to distinguish between these situations may become increasingly more important to management and counseling.
Summary: Imaging studies for congenital hypothyroidism may be unlikely to change immediate management in the majority of cases. The common modalities of imaging include thyroid ultrasound and radionuclide uptake scanning with either technetium or iodine. These can help establish an etiology for the condition, and in less-common causes of congenital hypothyroidism may have implications on treatment decisions, prognosis, and counseling.