Congenital causes of hypothyroidism
Congenital causes of hypothyroidism may be grouped into three clinical groups:
- hypothyroidism with absent thyroid tissue, due to:
- mutations in the TSH-receptor, PAX-8 or TTF2
- mutations in the TSH-receptor, PAX-8 or TTF2
- hypothyroidism with thyroid tissue present:
- iodine transport defects:
- these patients have a low radioiodine uptake
- iodine organification defects:
- iodine transport defects:
hypothyroidism with high radioiodine uptake and positive perchlorate discharge:
- thyroglobulin synthesis defect:
- Pendred's syndrome
- some TSH-receptor mutations
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