A patient with Allan-Herndon-Dudley Syndrome has a number of problems related to thyroid hormone. This is related to dysfunction of the MCT8 (SLC16A2) gene which affects transport of thyroid hormone into cells.
A patient with Allan-Herndon-Dudley Syndrome has:
(1) elevated serum T3 concentration
(2) low or normal serum T4 concentration
(3) normal or high TSH concentration
The elevated serum T3 may be associated with:
(1) tachycardia
(2) weight loss
The T3 analogue Triac (triiodothyroacetic acid) does not require the MCT8 transporter to enter cells. Therapy with Triac in clinical trials is associated with:
(1) decrease in serum T3 concentration
(2) decrease in heart rate
(3) weight gain
(4) other functional improvements
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