AI Article Synopsis
- This paper reviews the role of the GHRH-GH-IGF-I axis in causing short stature, particularly focusing on its genetic and molecular aspects.
- Short stature due to growth hormone deficiency affects roughly 1 in 4,000 to 10,000 births, with 3-30% of cases having a genetic link in close relatives.
- Recent discoveries about specific mutations in pituitary transcription factors and other elements of this axis suggest there may be more genetic defects than currently recognized, highlighting an ongoing need for research in this area.
Article Abstract
In this paper, the genetics and molecular biology of the GHRH-GH-IGF-I (Growth Hormone Releasing hormone-Growth Hormone-Insulin like Growth Factor I) axis involved in the pathogenesis of short stature are reviewed. Short stature associated with GH deficiency is estimated to occur in about 1/4000-10,000 live births; 3-30% of cases affect first-degree relatives, suggesting a genetic aetiology. Identification of such molecular defects is very recent and dependent on new findings on the physiology of GHRH-GH-IGF-I axis: for example the pituitary-specific transcription factors and their mutations have only been described in the last few years. The epidemiological importance of the identified molecular defect depends on the level of the axis involved, but the prevalence of some of these genetic defects is probably underestimated. Time will tell what the practical relevance of these findings is and what the clinical features of the new mutations are; we will probably learn something more about the GHRH-GH-IGF-I axis: to date, no mutations have been reported regarding the GHRH gene or the IGF-I receptor.
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