[Donohue syndrome or leprechaunism].

  title={[Donohue syndrome or leprechaunism].},
  author={Deborah Planchenault and Dominique Martin-Coignard and D Rugemintwaza and A Bah and Laure Cosson and François Labarthe and Alain Chantepie and Elie Saliba},
  journal={Archives de pediatrie : organe officiel de la Societe francaise de pediatrie},
  volume={21 2},
Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic… CONTINUE READING


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