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SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.

Naama Fisch Shvalb
Published in: Current diabetes reports (2022)
The clinical spectrum of the disorder appears wider than previously understood, and overlaps with other clinical syndromes. PI3K malfunction is associated with insulin resistance, decreased lipogenesis, increased energy expenditure, and possible IGF1 resistance. SHORT syndrome may be underdiagnosed, and should be considered in individuals with growth failure, craniofacial dysmorphism, and lipodystrophy. Much is still unknown about the optimal management and long-term outcomes.
Keyphrases
  • insulin resistance
  • metabolic syndrome
  • type diabetes
  • case report
  • skeletal muscle
  • high fat diet
  • cell proliferation
  • binding protein
  • polycystic ovary syndrome
  • high fat diet induced
  • weight loss