Leprechaunism
Overview
A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
Symptoms
* Growth deficiency * Retarded osseous maturation * Lack of adipose tissue * Low birth weight * Small eyes
Causes
The cause of the disease is the lack of a fully functional insulin receptor, which has a profound effect during fetal development and thereafter. In one case, it was found (by culturing pancreatic cells) that the receptor produced by the mutant allele is only about 15% as effective as the normal receptor.[1]. The beta cells in the pancreas, which make and store insulin and release it on an as-needed basis, are often found to be very large or numerous.
Prognosis
The prognosis is quite dire, with early death usual.[2] In fact, most patients die in their first year except in milder forms of the disease, but few are known to have lived longer.[1] The variation is unsurprising given the diversity of mutations causing the disease.