New Revelations about the Role of STATs in Stature

Authors:
  • OPOra Hirsch Pescovitz
    Ora Hirsch Pescovitz
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Abstract
In this issue of the Journal, Kofoed et al. (pages 1139–1147) describe a novel mechanism for impaired growth in the form of a mutation in the gene for the intracytoplasmic protein signal transducer and activator of transcription 5b (STAT5b). The mutation disrupts the intracellular signaling that promulgates the physiologic effects of growth hormone. This finding illuminates an important arena of molecular genetic abnormalities involving the growth hormone–insulin-like growth factor I (IGF-I) axis.The most striking feature of the patient described by Kofoed et al. is profound growth failure, manifested by a height at a chronologic age of 16.5 years that . . .