Case of the Month: July 2008

Patient info

age: newborn

ethnicity: Other

sex: Female

Presentation

Hypothyroidism on neonatal screening

Imaging findings

Technetium scan shows enlarged and rounded thyroid gland with increased uptake. Faint salivary and gastric activity is also noted.
Transverse ultrasound image of the the thyroid gland is normal.
Click image thumbs to see large versions

Diagnosis

diagnosis:

dyshormonogenesis

Diagnosis code:

2.521

Dyshormonogenesis refers to a group of enzyme defects that result in impaired iodine organification (conversion of dietary iodine to thyroid hormone). Iodine uptake is preserved, and in the setting of hypothyroidism and elevated TSH levels, will be increased. thus the gland will appear enlarged on technetium scan.

Reference(s):

Diagnostic imaging in pediatric diseases: Thyroid scintigraphy, in Pediatric nuclear imaging. Miller, JH and Gelfand, MJ., Eds. 1994. W. B. Saunders, Philadelphia.