SHORT syndrome and insulin resistance

Am J Med Genet. 1993 Nov 1;47(6):907-9. doi: 10.1002/ajmg.1320470619.

Abstract

We describe a further case of SHORT syndrome. This girl shows nearly all the typical manifestations reported in patients with SHORT syndrome. However, at 14 years she presented with non-ketotic hyperglycemia. At 16 1/2 years, the diagnosis of diabetes mellitus secondary to severe insulin resistance was made by intravenous insulin challenge. Insulin resistant diabetes mellitus seems to be a new finding in SHORT syndrome, not previously described in this condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Body Height
  • Female
  • Humans
  • Insulin Resistance*
  • Male
  • Syndrome