Summary
Diagnosis
- A screening test is performed on a newborn blood spot sample for the measurement of thyroid stimulating hormone (TSH). A high TSH suggests hypothyroidism.
- Confirmatory tests:
- Pre-treatment thyroid function tests (TSH and free thyroxine fT4).
- Quantitative thyroglobulin (TG)
- Optional confirmatory tests may include:
- Thyroid imaging (ultrasound and/or radio-isotope scans of the neck, sub-lingual and upper chest area).
- Thyroid autoantibodies (thyroid peroxidase and TSH receptor antibodies) in the infant (and if indicated in the mother).
- Maternal TFTs
- Genetic testing
Treatment
Replacement therapy with levothyroxine (thyroxine, L-thyroxine, LT4).