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Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives
M O Savage1, C P Burren, J C Blair
1Department of Endocrinology, St Bartholomew's Hospital, and The Royal London School of Medicine and Dentistry, UK. m.o.savage@mds.qmw.ac.uk
Hormone Research
|October 31, 2001
Summary
Genetic growth hormone (GH) insensitivity, or Laron syndrome, presents with varied symptoms. A mild subgroup with normal features and moderate biochemical abnormalities overlaps with idiopathic short stature (ISS).
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Genetic growth hormone (GH) insensitivity, including Laron syndrome, is a complex disorder.
- Characterized by low insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) with high GH levels.
- Phenotypic and endocrine features of GH insensitivity syndrome (GHIS) are heterogeneous.
Purpose of the Study:
- To investigate the spectrum of GH insensitivity in a European cohort.
- To identify subgroups within GHIS, particularly those overlapping with idiopathic short stature (ISS).
- To explore the endocrinological definition of partial GHIS.
Main Methods:
- Analysis of a cohort of GHIS patients with varying phenotypes.
- Examination of facial features and anthropometric data.
- Biochemical assessment of IGF-I and IGFBP-3 levels.
- Evaluation of GH sensitivity using the IGF-I generation test.
Main Results:
- A mild subgroup of GHIS was identified with normal facial features, mild short stature, and moderate biochemical abnormalities.
- Overlap between partial GHIS and ISS was observed, linked to heterozygous GH receptor mutations.
- Endocrinological definition of partial GHIS remains unclear.
Conclusions:
- Partial GHIS represents a spectrum that can mimic ISS.
- Further refinement of the IGF-I generation test, including GH dosage and sampling frequency, is needed to diagnose GH sensitivity abnormalities in ISS.