These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


PUBMED FOR HANDHELDS

Search MEDLINE/PubMed


  • Title: [Donohue's syndrome (Leprechaunism)].
    Author: Imamura T, Kobayashi M.
    Journal: Nihon Rinsho; 1994 Oct; 52(10):2643-7. PubMed ID: 7983792.
    Abstract:
    The syndrome of leprechaunism is characterized by the elfin-like face, hirsutism, acanthosis nigricans, absence of subcutaneous fat, and intrauterine and neonatal growth retardation. Most of the cases have severe insulin resistance with the mutation of the insulin receptor gene. In some cases, patient had two different mutations of the insulin receptor gene, and showed extremely severe insulin resistance. However, the genetic abnormalities responsible for the patient's phenotype, other than the insulin resistance, have not been found. Further study to define the additional genetic defects will be necessary to understand the abnormalities of this disorder.
    [Abstract] [Full Text] [Related] [New Search]