donohue syndrome


Summary: Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

Top Publications

  1. Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, et al. Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. Diabetes. 2017;66:2713-2723 pubmed publisher
    ..A patient with Donohue syndrome (DS) had a novel p...