Donohue's syndrome

Donohue syndrome (also known as leprechaunism) is an extremely rare disease. Its name derives from the fact that those affected by the disease have traits of gnome and are smaller than usual. The facial features that characterize the leprechaunismo are among others, elongated ears, of enlarged lobe and low implantation, nostrils widened and thick lips. Other features would include: genital alterations, elongated breasts and clitoris in women and penis also elongated in males, as well as severe dwarfism. Those affected are insulin-resistant. Death occurs early.

Leprechaunism is a genetic and endocrinological disease. The mutation responsible for leprechaunism is found in the short arm of chromosome 19 (19p13.2) within the coding sequence of the insulin receptor gene (INSR), which produces inactive receptor molecules.

Leprechaunism was first identified in 1948 by Dr. W.L. Donohue, naming it at first dysendocrinia and later publishing, in 1954, two new cases under the name of leprechaunismo.

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