Rare Diseases 2022

SíHighlander syndrome: what é, symptoms and causes

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SíHighlander syndrome: what é, symptoms and causes
SíHighlander syndrome: what é, symptoms and causes

Highlander syndrome is a rare disorder characterized by delayed physical development, which makes a person look like a child when, in fact, he is an adult.

Thus, the person has growth retardation, absence of body hair and absence of deepening of the voice, for example. The diagnosis is basically made from a physical examination, as the characteristics are quite evident.

However, it is still not known what really causes the syndrome, but scientists believe that it is due to genetic mutations capable of slowing down the aging process and, thus, delaying the characteristic changes of puberty, for example.

Symptoms of Highlander Syndrome

Highlander syndrome is mainly characterized by growth retardation, which makes the person look like a child, when, in fact, they are over 20 years old, for example.

In addition to the developmental delay, people with this syndrome do not have hair, the skin is smooth, although there may be wrinkles, and, in the case of men, there is no deepening of the voice, for example. These changes are normal to happen at puberty, however, people with Highlander syndrome do not usually go through puberty. Learn about the bodily changes that take place at puberty.

Possible causes

The real cause of Highlander syndrome is still unknown, but it is believed to be due to a genetic mutation. One of the theories that justify 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 cell division process, preventing uncontrolled division from occurring, which is what happens in cancer, for example. With each cell division, a piece of 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 telomere that was lost, thus delaying aging.

There are still few cases reported about Highlander syndrome, so it is still not really known what leads to this syndrome and 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 hormone replacement therapy can be started..

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