Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Leprechaunism
Introduction
Overview
Overview
Donohue Syndrome (also known as Leprechaunism) is an extremely rare medical condition. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Facial features indicative of Leprechaunism include protuberant and low-set ears, flaring nostrils, and thick lips. Physical features include enlarged breasts and clitorises in females and enlarged penises in males, as well as severe growth retardation. Sufferers are resistant to insulin. Early death is usual.
Leprechaunism is an autosomal recessive genetic disorder. The mutations responsible for Leprechaunism are found on the short arm chromosome 19 (19p13.2) within the coding sequence of the INSR gene (insulin receptor) causing the production of inactive receptor molecules.
Leprechaunism was first identified in 1948 by Dr. W.L. Donohue.
References
References
External links
External links
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]