Highlander syndrome is a rare disease characterized by a delay in physical development, which makes the person look like a child when he or she is actually an adult.
The diagnosis is basically made from physical examination, since the characteristics are very evident. However, it is not yet known what actually causes the syndrome, but scientists believe it is due to genetic mutations capable of slowing the aging process and thus delay the characteristic changes of puberty, for example.
Symptoms of Highlander Syndrome
The Highlander syndrome is characterized mainly by the delay in growth, which leaves the person with the appearance of a child, when in fact, it has more than 20 years, for example.
In addition to the developmental delay, people with this syndrome do not have hair, the skin is soft, although it may have wrinkles, and in the case of men, there is no thickening of the voice, for example. These changes are normal to occur at puberty, however, people with Highlander syndrome do not usually enter puberty. Find out what the body changes happen at puberty.
Possible causes
It is not yet known what the true cause of Highlander syndrome is, but it is believed to be due to a genetic mutation. One of the theories justifying Highlander syndrome is the change in telomeres, which are structures present in the chromosomes that are related to aging.
Telomeres are responsible for controlling the process of cell division, preventing uncontrolled division, which is what happens in cancer, for example. With each cell division, a piece of the telomere is lost, leading to progressive aging, which is normal. However, what may happen in Highlander syndrome is the overactivation of an enzyme called telomerase, which is responsible for reconstituting the part of the telomer that has been lost, thereby retarding aging.
There are still a few reported cases of Highlander syndrome, so it is not yet known what leads to this syndrome and how it can be treated. In addition to consulting a geneticist, in order to make a molecular diagnosis of the disease, it may be necessary to consult an endocrinologist in order to verify the production of hormones, which is probably altered, so that hormone replacement therapy can be initiated .
