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Leprechaunism - College Papers

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 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 , 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 because infants with the disease have an elf-like face and their growth is severely ...

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to , as it is caused by high insulin levels. This pigmentation normally occurs in areas of the body where flexing and bending occurs, such as the back of the neck.
 Reddening of the skin or erythema. This is caused by localized irritation. Most often the areas of the body most affected are those such as the gluteal cleft, groin area, and other places that friction might occur. It is not limited to these areas as it occurs on any other part of the body as well, such as the extremities.
 Pincer nails. This is where the nails of the feet and hands have an increased inward folding. This often gives the visual effect of claws in severe cases.
 Hirsutism or excessive hair growth.
 Gynecomastia or abnormal swelling of the breasts with prominent nipples. This effect is the result of excessive production of estrogen.
 Enlarged genitalia.
 Dysmorphic facial features including large, low-set ears, depressed nasal bridge with a ...

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insulin-like growth factor-I (IGF-I). In a least one Leprechaunism patient, injections of IGF-I prevented the post natal growth retardation and normalized the effects of insulin on glucose metabolism. Further to this, no adverse effects were noticed.
Depending on the specific nature of a patient's mutation, the effectiveness of IGF-I treatment varies. For example, if the mutation affects the phosphorylation ability of the insulin receptor, or its expression on cell surfaces, the IGF-I injections will not be able to normalize the signaling pathway. At this time for patients with mutations affecting these insulin receptor functions, the only hope that can be offered is one of ...

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PAPER DETAILS
Added: 1/23/2004 06:49:30 AM
Category: Science & Nature
Type: Premium Paper
Words: 1521
Pages: 6

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