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Related Experiment Videos

Partial growth hormone insensitivity.

L B Johnston1, M O Savage

  • 1Department of Endocrinology, St Bartholomew's Hospital, West Smithfield, London, UK.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|March 4, 2000
PubMed
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Partial growth hormone insensitivity presents with IGF-I deficiency but normal GH levels. Identifying patients with GH resistance through clinical and biochemical means is crucial before genetic analysis.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Partial growth hormone (GH) insensitivity is characterized by Insulin-like Growth Factor I (IGF-I) deficiency without GH deficiency or Laron syndrome features.
  • Evidence supports the existence of GH insensitivity in severe GH resistance and idiopathic short stature (ISS).

Purpose of the Study:

  • To investigate the clinical and molecular spectrum of GH insensitivity.
  • To evaluate the role of GH receptor mutations in idiopathic short stature.

Main Methods:

  • Clinical and biochemical assessment of GH insensitivity patients.
  • Molecular screening of the GH receptor gene in children with ISS and normal GH Binding Protein (GHBP).

Main Results:

Related Experiment Videos

  • A spectrum of clinical and biological defects was observed in GH insensitivity patients.
  • Molecular screening of 31 children with ISS and normal GHBP did not identify mutations in the intracellular domain of the GH receptor.

    • Conclusions:

    • Partial GH insensitivity is a recognized clinical entity.
    • Clinical and biochemical evaluation should guide the identification of patients with GH resistance before molecular analysis.
    • Individualized genetic analysis is more effective than broad screening for identifying mutations.