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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