Leprechaunism

Definition:

Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.

References:

[1]. G Kosztolányi, et al. Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding. Eur J Pediatr. 1997 Apr;156(4):253-5. [Content Brief]

[2]. J P Whitehead, et al. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes. 1998 Aug;47(8):1362-4. [Content Brief]

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