Abstract
Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.
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Abbreviations
- AR:
-
Autosomal recessive
- AD:
-
Autosomal dominant
- GHD:
-
Growth hormone deficiency
- GHR:
-
Growth hormone receptor
- GHRH:
-
Growth hormone releasing hormone
- GHBP:
-
Growth hormone binding protein
- HESX1:
-
paired-like homeobox gene expressed in embryonic stem cells
- JAK2:
-
Janus kinase 2
- LHX-3,4:
-
LIM-type homeodomain protein
- PROP1:
-
prophet of pit 1
- POUF1:
-
Pit-1, Oct-1; Oct-2; Unc-86
- STAT:
-
Signal transducer and activator of transcription
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Lee, J., Menon, R.K. Molecular defects in the growth hormone-IGF axis. Indian J Pediatr 72, 145–148 (2005). https://doi.org/10.1007/BF02760700
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DOI: https://doi.org/10.1007/BF02760700