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Selected Publication:

Schwingshandl, J; Mache, CJ; Rath, K; Borkenstein, MH.
SHORT syndrome and insulin resistance.
AMER J MED GENET. 1993; 47(6): 907-909. Doi: 10.1002/ajmg.1320470619 (- Case Report)
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Co-authors Med Uni Graz
Borkenstein Helmuth Martin
Mache Christoph
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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.
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Short Syndrome
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