In this issue of the Journal, Kofoed et al. (pages 1139–1147)describe a novel mechanism for impaired growth in the form ofa mutation in the gene for the intracytoplasmic protein signaltransducer and activator of transcription 5b (STAT5b). The mutationdisrupts the intracellular signaling that promulgates the physiologiceffects of growth hormone. This finding illuminates an importantarena of molecular genetic abnormalities involving the growthhormone–insulin-like growth factor I (IGF-I) axis.
The most striking feature of the patient described by Kofoedet al. is profound growth failure, manifested by a height ata chronologic age of 16.5 years that . . . [Full Text of this Article]
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From the Section of Pediatric Endocrinology and Diabetology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis.
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91: 1246-1253
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