Table 8 |
||||
|
Findings in diagnostic studies undertaken to identify the underlying etiology of congenital hypothyroidism |
||||
|
Defect |
Radionuclide image |
Ultrasonography |
Serum thyroglobulin |
Maternal TRB-Ab |
|
|
||||
|
Aplasia |
No uptake |
Absent gland |
Low |
Negative |
|
|
||||
|
Hypoplasia |
↓ uptake |
Small, eutopic |
Intermediate |
Negative |
|
|
||||
|
Ectopia |
↓ uptake, ectopic |
Ectopic gland (hypoplastic) |
Intermediate |
Negative |
|
|
||||
|
TSHβ mutations |
No uptake |
Eutopic gland (hypoplastic) |
Intermediate |
Negative |
|
|
||||
|
TSH receptor inactivating mutation |
↓ uptake |
Eutopic gland |
Intermediate-high |
Negative |
|
|
||||
|
Trapping error |
↓ or no uptake |
Eutopic gland |
Low-intermediate |
Negative |
|
|
||||
|
Beyond trapping error |
↑ uptake |
Eutopic, large gland |
High Exception: Tg gene mutations |
Negative |
|
|
||||
|
Maternal TRB-Ab |
↓ or no uptake |
Eutopic gland |
Low-intermediate |
Positive |
|
|
||||
|
Rastogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17 doi:10.1186/1750-1172-5-17 |
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