What is leprechaunism?

leprechaunism is an outdated name for the rare health condition better called donoHue syndrome. This syndrome affects the appearance of a person and results in pointed ears, a small figure and a short life. This is due to the genetic defect in insulin receptors that affect growth.

first described in 1948 Dr. W.L. Donohue, the cause of leprechaunism was not well known at the end of the 70s, when it was found that insulin receptors were abnormal. In the age of 80 was a suspicious genetic cause and doctors realized that it was a recessive gene. The recessive gene is a gene that has a mutation that does not cause health problems if it is inherited only from one parent. If both parents have a mutated form of the gene, the child can inherit both abnormal genes and develop the condition.

Insulin receptor genes are connected to the development of leprchaunism. Usually, the outside of the healthy cell has a receptor to which the insulin combines. Children who have asyndrome cannot create effective insulin receptors. TheThis syndrome is a technically serious form of diabetes. If blood contains too much insulin, then the growth of the body is unfavorable. In response to abnormal insulin levels, other hormones are produced by the body and may also affect body growth. This unbalanced growth system results in unusual facial features and the position of the affected child.

The unusual name of leprechaunism, first attached to the condition, stems from the physical appearance of the affected child. Small and pointed features and wide eyes, just like a mythological elf, are characteristics of children with donoHue syndrome. They are also smaller than usual and due to insulin problems associated with diseases as unaffected children. Abnormal levels of other hormones in the body can also cause children to have larger than normal hands, legs, breasts and sexual organs.

Most children born with this condition die before they reach 1 yearu. Death is usually caused by the inability to absorb nutrients from food or infections. Children who have this syndrome and who live in their teenagers usually have physical disabilities and mental damage. Genetic counseling is available for potential parents who carry genetic mutations, and genetic testing of the fetus before birth is possible.