ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2003) 5 S50 
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Research for clincial paediatric endocrinologists

JC Blair & MO Savage

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Few Paediatric Endocrinologists seek alternative careers on completion of subspeciality training. In addition to developing optimal clinical services, however, opportunities exist to work at the interface of clinical medicine and basic scientific research. Exciting developments in the investigation, diagnosis and treatment of paediatric endocrine patients reflect the success of collaboration between basic scientists and clinicians, paediatricians and adult physicians.
Short stature is the commonest reason for referral to the paediatric outpatient department. Detailed evaluation of the physiology of the growth hormone (GH) - IGF-I axis in short children has directed molecular analysis of the GH1 gene, IGF-I gene and GH receptor (GHR) gene. Together with analysis of GHR signalling, these studies have identified novel mechansims of hormone resistance.
Diagnosis of GH resistance at the molecular level or abnormality or deletion of the IGF-I gene provides the rationale for therapeutic trials of IGF-I and IGF-I/IGFBP-3 compounds. Early studies of IGF-I therapy in classical GH insensitivity syndrome demonstrated a beneficial effect on growth. It is anticipated that complexing IGF-I to IGFBP-3 will improve the side effect profile of IGF-I and more accurately reflect the physiological state.
Population studies looking at candidate genes for idiopathic short stature and intra uterine growth retardation are now in progress. These projects aim to increase our understanding of genetic influences on intrauterine and postnatal growth and improve diagnostic and therapeutic options.
In summary, the clinical scenario of unexplained short stature has stimulated extensive clinical, molecular and pharmacological research. Such studies offer the paediatric endocrinologist an opportunity to work at the interface of clinical and basic scientific research.

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