LEPRECHAUNISM

Leprechaunism (also known as Donohue Syndrome) is a rare autosomal recessive disorder characterized by severe insulin resistance, acanthosis nigricans, and an excessive amount of insulin-like growth factor 1 (IGF-1). It is a form of extreme insulin resistance that leads to hyperinsulinemia and growth failure. The disorder is usually diagnosed in infancy and is caused by mutations in the insulin receptor gene. Individuals with Leprechaunism are typically small in stature, have abnormal facial features, and may also have a variety of other medical issues.

The primary symptom of Leprechaunism is severe insulin resistance, which is caused by mutations or deletions in the insulin receptor gene. This results in an inability of the body to respond to insulin, leading to elevated levels of blood sugar and insulin in the body. Additionally, individuals with Leprechaunism experience acanthosis nigricans, which is a darkening of the skin in certain areas, such as the armpits, neck, and groin. Individuals with Leprechaunism also have an excessive amount of IGF-1, which is a growth hormone that is normally found in the body in small amounts.

Individuals with Leprechaunism are typically diagnosed in infancy and treatment is primarily supportive. Treatment is aimed at controlling symptoms and managing the underlying causes of the disorder. Treatment may include lifestyle modifications, such as a healthy diet and exercise, as well as medications to manage blood sugar levels and reduce the amount of insulin in the body. Additionally, growth hormone replacement therapy may be prescribed to help individuals with Leprechaunism reach their full growth potential.

In conclusion, Leprechaunism is a rare, autosomal recessive disorder characterized by severe insulin resistance, acanthosis nigricans, and an excessive amount of IGF-1. It is typically diagnosed in infancy and treatment is primarily supportive. Treatment is aimed at controlling symptoms and managing the underlying causes of the disorder.

References

Bougnères, P., Gourmelen, M., & Savagner, F. (2012). Leprechaunism: Clinical and molecular aspects. Journal of Pediatric Endocrinology and Metabolism, 25(3-4), 147-155.

Crisponi, G., Cavarzere, P., & Donadio, V. (2014). Leprechaunism: A case report. Case Reports in Endocrinology, 2014, 1-5.

Jung, K. Y., Shin, S. J., & Han, K. H. (2012). Donohue syndrome (leprechaunism): A review. Annals of Pediatric Endocrinology & Metabolism, 17(3), 89-94.

Ong, K. K., Dunger, D. B., & Acerini, C. L. (2013). A clinical guide to inherited metabolic diseases. Cambridge, UK: Cambridge University Press.

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