Leprechaunism
Leprechaunism is an extremely rare genetic disease that was first identified in 1948 by W.L. Donohue. There have only been 49 cases reported worldwide since is first reporting in 1948 until 1987. This disease is also known as Donohue Syndrome, in his honor.Most Leprechaunism patients die by the age of 10 months, although there have been cases of patients living until 11 years of age. This is because several different mutations in the insulin receptor gene can cause Leprechaunism, and the severity of the mutation determines the severity of the phenotype. Both male and female patients are affected by this disease. The disease is known as Leprechaunism because infants with the disease have an elf-like face and their growth is severely retarded. This is due to the patients being completely resistant to the effects of insulin. Leprechaunism is an autosomal recessive, Mendelian inheritance pattern. As stated before, both males and females can be affected. Its occurrence is associated with consanguineous relationships. A consanguineous relationship means that the parents are genetically related (e.g. first cousins). Hyperpigmented skin or as otherwise known, Acanth
Drugge R, Huntley A: The Electronic Textbook of Dermatology. Online. Internet: Leprechaunism. Online. Internet: http://206.105.18.10/nord/rdb_sum/387.htm These diseases do not have completely distinct phenotypes, but are related to the severity of insulin receptor mutation. The more severe the mutation, the more severe the phenotype. Most known mutations in the insulin receptor are nonsense mutations, and/or small deletions. Hirsutism or excessive hair growth. Donohue, W. L. : Dysendocrinism. Journal of Pediatrics 32: 739-748, 1948.
Some common words found in the essay are:
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Approximate Word count = 1621
Approximate Pages = 6 (250 words per page double spaced)
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