The first time this disease was described in the early 40's and was known as Allan-Herndon Syndrome, Dudley , as its discoverers mention William Allan, Florence C. Dudley and C. Nash Herndon. Later, in 2004, seven years ago, they knew what it produced: a deficiency in a transporter of thyroid hormone , MCT8 transporter, which made these substances did not reach the brain in neuronal development of the child.
It is a disease that only affects boys because it is an altered gene on chromosome X. This means that mothers, although carriers, never develop the disease but can pass the defective gene to their offspring male with a probability of 50 percent.
Recently a group of researchers led by Dr. Juan Bernal, the Biomedical Research Institute Alberto Sols and the Biomedical Research Centre Network for Rare Diseases , has gone a step further to learn more about the disease. According to their study, the hormone deficiency is that the same can not cross the blood-brain barrier (BBB) or whatever it is, the barrier that protects the brain from harmful substances. And this defect is due to the specific carrier of the same, the MCT8. But research has also shown that this defect results in an alteration of thyroid hormones T4 and T3 which has led them to create clinical guidelines for diagnosing these cases in young children.
