Highlander syndrome is a rare disease characterized by delayed physical development, which makes a person look like a child when, in fact, he is an adult.
The diagnosis is basically made from physical examination, since the characteristics are quite evident. However, it is still not known what actually causes the syndrome, but scientists believe it is due to genetic mutations capable of slowing the aging process and, thus, delaying the characteristic changes of puberty, for example.
Highlander syndrome symptoms
Highlander syndrome is mainly characterized by growth retardation, which makes a person look like a child, when, in fact, he is over 20 years old, for example.
In addition to developmental delay, people with this syndrome have no 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 happen at puberty, however, people with Highlander syndrome do not usually enter puberty. Know what are the bodily changes that happen at puberty.
Possible causes
The true cause of Highlander syndrome is not yet known, but it is believed to be due to a genetic mutation. One of the theories that justify Highlander syndrome is the alteration in telomeres, which are structures present in chromosomes that are related to aging.
Telomeres are responsible for controlling the cell division process, 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 can 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, thus slowing down aging.
There are still few cases reported about Highlander syndrome, which is why it is still not really known what leads to this syndrome or how it can be treated. In addition to consulting a geneticist, so that the molecular diagnosis of the disease can be made, it may be necessary to consult an endocrinologist in order to verify the production of hormones, which is probably altered, so that, thus, hormone replacement therapy can be started..
