Background: Thyroid gland ectopy is the most common cause in infants w
ith congenital hypothyroidism (CH). Its association with iodine organi
fication defect, as suggested by positive perchlorate discharge test (
PDT) has been reported. However, whether such an association represent
s a true or transient defect has not yet been determined. This finding
has an important clinical, epidemiological, and genetic implications.
Objective: To determine the natural history of iodine organification
defect in patients with CH caused by thyroid ectopy detected by neonat
al screening. Design: Prospective longitudinal study. Setting: King Kh
alid University Hospital, Riyadh, Saudi Arabia. Patients and Methods:
PDT was performed, at the time of diagnosis and follow-up, in infants
who showed an enlarged ectopic thyroid gland with a Tc-99m pertechneta
te uptake of 2% or more. Results: Of 115 neonates with ectopic thyroid
glands, 19 showed an enlarged gland with Tc-99m uptake ranging from 2
to 3.2%. Perchlorate discharge test was performed in 13 of these and
was consistent with iodine organification defect in nine. Repeated PDT
in seven patients showed normal values. Conclusion: The results of th
e authors' study indicate the transient nature of the iodine organific
ation defect and suggest that a delay in the developmental of syntheti
c mechanisms occur in the dysgenetic glands.