Short answer · Medically reviewed summary · Last updated: 2023-07-13
Leprechaunism, also known as Donohue syndrome, is an extremely rare genetic disorder characterized by severe insulin resistance. It is caused by mutations in the insulin receptor gene (INSR) and is inherited in an autosomal recessive manner.
What is the prevalence of Leprechaunism?
Prevalence of Leprechaunism: how many people are affected worldwide, differences by sex and region, with sources.
Leprechaunism, also known as Donohue syndrome, is an extremely rare genetic disorder characterized by severe insulin resistance. It is caused by mutations in the insulin receptor gene (INSR) and is inherited in an autosomal recessive manner. Due to its rarity, the prevalence of Leprechaunism is difficult to determine accurately.
Since its first description in the 1940s, only a few dozen cases have been reported worldwide. The disorder primarily affects individuals of consanguineous descent, where parents are closely related. The prevalence is estimated to be less than 1 in 10 million individuals globally.
Infants with Leprechaunism typically present with distinct physical features such as elfin-like facial appearance, low birth weight, and growth retardation. They experience severe hyperglycemia, leading to life-threatening complications if left untreated. Unfortunately, the prognosis for individuals with Leprechaunism is extremely poor, with most affected individuals not surviving beyond infancy.
Given its rarity and the devastating impact it has on affected individuals, Leprechaunism remains an area of active research to better understand its underlying mechanisms and develop potential treatment options.
