The Indian Journal of Pediatrics

, Volume 72, Issue 2, pp 145–148 | Cite as

Molecular defects in the growth hormone-IGF axis

  • Joyce Lee
  • Ram K. Menon
Symposium on Growth and Its Disorders


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.

Key words

Growth hormone Genetic defects Mutations 



Autosomal recessive


Autosomal dominant


Growth hormone deficiency


Growth hormone receptor


Growth hormone releasing hormone


Growth hormone binding protein


paired-like homeobox gene expressed in embryonic stem cells


Janus kinase 2


LIM-type homeodomain protein


prophet of pit 1


Pit-1, Oct-1; Oct-2; Unc-86


Signal transducer and activator of transcription


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Copyright information

© Dr. K C Chaudhuri Foundation 2005

Authors and Affiliations

  • Joyce Lee
    • 1
  • Ram K. Menon
    • 1
  1. 1.Division of Endocrinology, Department of Pediatrics, CS Mott Children’s HospitalUniversity of Michigan Health SystemAnn ArborUSA

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